Galactosemia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

GALACTOSEMIA A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES J AMES ...

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GALACTOSEMIA A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright 2004 by ICON Group International, Inc. Copyright 2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Galactosemia: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-497-00440-2 1. Galactosemia-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International, Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on galactosemia. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON GALACTOSEMIA ........................................................................................ 3 Overview........................................................................................................................................ 3 The Combined Health Information Database................................................................................. 3 Federally Funded Research on Galactosemia ................................................................................. 4 E-Journals: PubMed Central ....................................................................................................... 12 The National Library of Medicine: PubMed ................................................................................ 13 CHAPTER 2. NUTRITION AND GALACTOSEMIA .............................................................................. 55 Overview...................................................................................................................................... 55 Finding Nutrition Studies on Galactosemia ................................................................................ 55 Federal Resources on Nutrition ................................................................................................... 56 Additional Web Resources ........................................................................................................... 57 CHAPTER 3. ALTERNATIVE MEDICINE AND GALACTOSEMIA ........................................................ 59 Overview...................................................................................................................................... 59 National Center for Complementary and Alternative Medicine.................................................. 59 Additional Web Resources ........................................................................................................... 62 General References ....................................................................................................................... 62 CHAPTER 4. PATENTS ON GALACTOSEMIA .................................................................................... 63 Overview...................................................................................................................................... 63 Patents on Galactosemia .............................................................................................................. 63 Patent Applications on Galactosemia .......................................................................................... 67 Keeping Current .......................................................................................................................... 69 CHAPTER 5. BOOKS ON GALACTOSEMIA ........................................................................................ 71 Overview...................................................................................................................................... 71 Book Summaries: Federal Agencies.............................................................................................. 71 Chapters on Galactosemia ............................................................................................................ 72 Directories.................................................................................................................................... 73 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 77 Overview...................................................................................................................................... 77 NIH Guidelines............................................................................................................................ 77 NIH Databases............................................................................................................................. 79 Other Commercial Databases....................................................................................................... 81 APPENDIX B. PATIENT RESOURCES ................................................................................................. 83 Overview...................................................................................................................................... 83 Patient Guideline Sources............................................................................................................ 83 Finding Associations.................................................................................................................... 85 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 87 Overview...................................................................................................................................... 87 Preparation................................................................................................................................... 87 Finding a Local Medical Library.................................................................................................. 87 Medical Libraries in the U.S. and Canada ................................................................................... 87 ONLINE GLOSSARIES.................................................................................................................. 93 Online Dictionary Directories ..................................................................................................... 94 GALACTOSEMIA DICTIONARY ............................................................................................... 97 INDEX .............................................................................................................................................. 135

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with galactosemia is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about galactosemia, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to galactosemia, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on galactosemia. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to galactosemia, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on galactosemia. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON GALACTOSEMIA Overview In this chapter, we will show you how to locate peer-reviewed references and studies on galactosemia.

The Combined Health Information Database The Combined Health Information Database summarizes studies across numerous federal agencies. To limit your investigation to research studies and galactosemia, you will need to use the advanced search options. First, go to http://chid.nih.gov/index.html. From there, select the “Detailed Search” option (or go directly to that page with the following hyperlink: http://chid.nih.gov/detail/detail.html). The trick in extracting studies is found in the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Journal Article.” At the top of the search form, select the number of records you would like to see (we recommend 100) and check the box to display “whole records.” We recommend that you type “galactosemia” (or synonyms) into the “For these words:” box. Consider using the option “anywhere in record” to make your search as broad as possible. If you want to limit the search to only a particular field, such as the title of the journal, then select this option in the “Search in these fields” drop box. The following is what you can expect from this type of search: •

Oral Health Implications in Children with Inborn Errors of Intermediary Metabolism: A Review Source: International Journal of Paediatric Dentistry. 7(3): 133-141. September 1997. Contact: Available from Blackwell Science Ltd. Journal Subscriptions, P.O. Box 88, Oxford OX2 0NE, United Kingdom. +44 1865 206180. Fax +44 1865 206219. E-mail: [email protected]. Summary: Children with inborn errors of metabolism form an important group of children at risk of oral pathology. Their management includes dietary therapies which aim to promote normal growth and development, but which are often highly cariogenic. This article reviews these disorders and the limited literature that exists on the oral health implications of those conditions that rely on dietary manipulation for their

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management. The authors conclude with suggestions for dental care for these children. Metabolic disorders discussed include phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), organic acidemias, urea cycle disorders, homcystinuria, tyrosinemia, galactosemia, glycogen storage disorders (GSD), hereditary fructose intolerance (HFI), and disorders of fat oxidation. Management issues discussed include the prevalence of dental caries in these children, soft tissue pathology, preventive care, operative treatment (restorative), and medications. The authors warn that provision of dental treatment may be complicated by their metabolic disorder, and they therefore require careful multidisciplinary management. 2 tables. 33 references. (AA-M). •

Formula Allergy and Intolerance Source: Gastroenterology Clinics of North America. 24(1): 1-25. March 1995. Contact: Available from W.B. Saunders Company, Periodicals Fulfillment, 6277 Sea Harbor Drive, Orlando, FL 32887. (800) 654-2452. Summary: This article reviews the clinical presentation, diagnosis, and treatment of two major types of adverse reactions to infant formulas: formula allergy/hypersensitivity, which is an immunologic response; and formula intolerance, which is a nonimmunologic response. Formula intolerance can occur in infants with an underlying congenital or acquired enzyme deficiency (disaccharidase deficiency, galactosemia, hereditary fructose intolerance). The author discusses the appropriateness of the use of a variety of infant formulas. Guidelines for the prevention of allergic disease are described as well. 4 figures. 9 tables. 87 references. (AA-M).

Federally Funded Research on Galactosemia The U.S. Government supports a variety of research studies relating to galactosemia. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to galactosemia. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore galactosemia. The following is typical of the type of information found when searching the CRISP database for galactosemia: •

Project Title: BRAIN H2D MRS: IMPLEMATION AND INITIAL APPLICATIONS Principal Investigator & Institution: Wang, Zhiyue J.; Assistant Professor; Radiology; Baylor College of Medicine 1 Baylor Plaza Houston, Tx 77030 Timing: Fiscal Year 2002; Project Start 15-AUG-2002; Project End 31-JUL-2005

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Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

Studies

5

Summary: (provided by applicant) The long-term objective is to apply 2D 1H magnetic resonance spectroscopy (MRS) techniques in studies of pediatric neurological disorders. 1H MRS is valuable for evaluating neurological brain diseases. However, there are limitations in current clinical 1H MRS examinations. Most peaks are crowded in a narrow aliphatic spectral window, and numerous low concentration metabolites are overshadowed by a few metabolites present in higher levels, and much valuable information is lost. Most metabolites have coupled spins, and 2D MRS separates the peaks in a second frequency dimension, greatly increasing the information content of the data. Application of 2D MRS in clinical examinations will enhance the abilities for diagnoses and patient management, and improve the understanding of disease processes. The specific aims are: (1) to implement 2D spin-echo double-quantum MRS pulse sequences for in vivo measurement of brain metabolites in 1.5T clinical scanners: (1a) to implement a localized pulse sequence optimized for GABA measurement; (1b) to implement localized pulse sequences for general detection of metabolites; (1c) to implement whole-brain measurement pulse sequences for general detection of metabolites. (2) to assign and evaluate peaks detected in the normal brain: (2a) to acquire spectra from metabolite solutions; (2b) to acquire brain spectra and baselines due to macromolecules in a group of adult normal volunteers; (2c) to assign the in vivo peaks and measure metabolite levels, and to determine optimal pulse sequences for studies of Aim 3; (2d) to acquire age-matched control spectra from normal children. (3) to explore the utility of the 2D MRS techniques in patients between the ages of 7 and 11 years: (3a) to study the effects of the ketogenic diet (KD) on brain GABA levels in seizure patients; (3b) to measure the brain?s level of branched chain amino-acids (BCAA) and keto-acids (BCKA) in maple syrup urine disease (MSUD); (3c) to test the hypothesis that low levels of brain galactitol are present even under a lactose restrictive diet; (3d) to study unassigned, unusual spectral peaks found in routine clinical MRS examinations. A localized 1D double-quantum filtered MRS pulse sequence will be modified into several 2D double quantum MRS pulses for localized and whole brain measurement. Different pulse parameters will be used for different types of spin systems. A frequency selective coherent transfer pulse will be used for optimal detection of GABA, and a broadband coherent transfer pulse will be used for all other 2D pulse sequences. The measurement procedures will be applied to normal subjects first. MRS measured GABA level before and after initiation of KD therapy will be compared in seizure patients and correlated with response. The MRS measurement of BCAAs and BCKAs will be conducted during metabolic crisis and in normal conditions in MSUD and correlated with clinical condition and serum BCAA and urine BCKA. In galactosemia, 2D MRS will be used to look for low levels of galactitol, and the MRS results will be correlated with the urine galactitol levels. 2D MRS will also be used to characterize unusual peaks found in clinical practice. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GALACTOSE METABOLIC PATHWAYS Principal Investigator & Institution: Elsas, Louis J.; Professor of Pediatrics and Biochemistry; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2002; Project Start 01-DEC-2001; Project End 30-NOV-2002 Summary: The overall hypothesis is that enigmatic clinical outcomes in patients with galactosemia who have identical molecular and biochemical mutations in red blood cell galactose-1-phosphate uridyltransferase (GALT) are caused by alternative pathways and organ-specific impairment for galactose metabolism. This hypothesis will be tested by quantitative and qualitative comparisons of in vivo galactose metabolic pathways in

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patients with galactosemia who are homozygous for the Q188R mutation, and have other defined mutations. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GALACTOSEMIA: IDENTIFICATION BY METABOLIC LIVER BIOPSY Principal Investigator & Institution: Segal, Stanton; Professor; Children's Hospital of Philadelphia 34Th St and Civic Ctr Blvd Philadelphia, Pa 191044399 Timing: Fiscal Year 2004; Project Start 01-MAR-2004; Project End 31-JAN-2006 Summary: (provided by applicant): Galactosemia, the inherited inability to metabolize galactose, a major nutrient in milk, due to deficient galactose-1-phosphate uridyltransferase (GALT), is an enigmatic disorder. The therapeutic use of galactoserestricted diets has failed to prevent long-term complications of cognitive impairment, speech disorders, neurologic ataxias and ovarian failure. The development of new therapeutic strategies is an imperative. Most patients, even those considered to have a severe mutation, have an ability to slowly oxidize galactose to CO2 which accounts in large part for disposition of their endogenous galactose production. Augmenting that ability may be a new therpeutic approach if the mechanism(s) involved can be delineated. The aim of this proposal is to determine, by a new technique of "metabolic biopsy" of liver uridinedisphospho glucose (UDPglu) pool, if galactosemic patients have residual GALT activity to explain their limited ability to metabolize the sugar and how much is accounted for by other known alternate pathways. The method involves the powerful tool of 13C NMR and 1H NMR to measure the 13C enrichment and total quantity of urinary acetaminophen (Tylenol) glucuronide over 24 hr following oral bolus administration of 2-13C galactose with concomittant administration of acetaminophen. Acetaminophen is largely excreted (65%) in subjects over age 9 yr as the glucuronide, which is derived from UDPglu, the key intermediate in the normal pathway of galactose metabolism. The extent to which this happens will indicate how much of the normal pathway remains. The study will be performed in normal subjects and galactosemics homozygous for the Q188R mutation which accounts for 50% of Caucasian patients, Q188R compound heterozygotes, S135L in African Americans who we know to have residual activity and Ashkenazi with homozygous gene deletions who cannot have any residual activity. An analysis will be made of residual GALT function in relation to various genetic types. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: HUMAN ENZYMES UNDERLYING GALACTOSEMIA Principal Investigator & Institution: Fridovich-Keil, Judith L.; Associate Professor; Human Genetics; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2002; Project Start 01-AUG-1993; Project End 31-JUL-2007 Summary: (provided by applicant): One of the fundamental questions in human genetics concerns the normal function of proteins associated with genetic disease, and the impact of patient mutations on those proteins and their activities. The long-term goal of this project is to elucidate the natural structure/ function relationships and interactions of enzymes that mediate galactose metabolism in humans, and the impact of mutations in the corresponding genes that result in galactosemia, a potentially lethal inborn error of metabolism that affects - 1145,000 liveborns. Galactosemia is characterized by extraordinary allelic, biochemical, and clinical heterogeneity. The proposed experiments address the basis of that heterogeneity, and focus on galactose- 1-

Studies

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phosphate uridylyltransferase (GALT), impaired in patients with classic galactosemia, and UDP-galactose-4'-epimerase (GALE), impaired in patients with epimerasedeficiency galactosemia. These enzymes normally catalyze successive steps in the Leloir pathway of galactose metabolism. Human GALE further catalyzes the interconversion of UDP-gaINAc/UDPglcNAc, thereby regulating substrate pools essential for all 0linked glycosylation reactions in humans. Prior studies have demonstrated marked allelic heterogeneity in both galactosemias, and have suggested a relationship between genotype, biochemical impairment, and clinical outcome for both disorders. The basis for why some mutations or allelic combinations result in greater impairment than others, however, remains largely obscure, and is a principle focus for the proposed work. The short-term goals of this project are to: (1) define structure/function relationships and interactions for both wild-type and mutant forms of human GALT, (2) define structure/function relationships and interactions for both wild-type and mutant forms of human GALE, and (3) define the role of human GALE in determining metabolic and glycosylation defects in mammalian cells with transferase-deficiency vs. epimerase-deficiency galactosemia. The results of these studies will be significant in that they will provide basic science advances and challenge existing paradigms regarding human GALT and GALE activities, structures, interactions, coordination, and metabolic influence. They will also result in the production of useful reagents, including mammalian cell lines specifically deficient in 0-linked protein glycosylation. Finally, they will offer improved diagnostic and prognostic tools for both classic and epimerasedeficiency galactosemia, and ultimately should help to inform a rational approach to the generation of novel treatments for patients with these disorders. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: IGA NEPHROPATHY

GLYCANS

AND

IMMUNE

COMPLEXES

IN

IGA

Principal Investigator & Institution: Tomana, Milan; Medicine; University of Alabama at Birmingham Uab Station Birmingham, Al 35294 Timing: Fiscal Year 2002; Project Start 01-FEB-2001; Project End 31-JAN-2005 Summary: (Applicant's Description Verbatim): IgA nephropathy (IgAN), the most common glomerulonephritis in the world is characterized by elevated levels of IgA1 in its polymeric form in circulation, presence of circulating immune complexes (CIC) and deposition of IgA1, frequently with C3 component of complement and IgG and/or IgM in glomerular mesangium. Earlier studies have shown that IgA1 in IgAN patients displays aberrant structural features in the heavy chain hinge region glycans. Carbohydrate analysis and lectin-binding studies have shown that the hinge region glycans bound by O-glycosidic bonds to Ser or Thr residues are deficient in galactose (Gal), resulting in an increased exposure of N-acetylgalactosamine (GalNAc). Furthermore, our earlier studies have shown that Gal deficient IgA1 molecules are present mainly in high molecular mass CIC that also contain IgG molecules. Our preliminary studies indicate that the interaction of Gal-deficient IgA1 with IgG, and probably other major isotypes, is based on antigen (IgA1) and antibody (IgG) recognition. Experimental approaches proposed in this application are designed to test the following hypothesis: An altered glycosylation of IgA1 hinge region results, due to the Gal deficiency, in exposure of GalNAc-Ser/Thr associated antigenic determinant(s) which are recognized by ubiquitous, naturally occurring antibodies, predominantly of the IgG isotype, which are involved in the formation of CIC and mesangial depositions. The following specific aims are proposed to test this hypothesis: 1) Determine the localization of antigenic determinants in IgA1 with aberrantly glycosylated hinge region

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glycans, involved in the formation of CIC; 2) Examine whether the Gal-deficient molecules are of systemic or mucosal origin; 3) Characterize the specificities and molecular properties of IgG, IgA, and IgM antibodies that bind to epitopes in the aberrantly glycosylated IgA1 hinge region; 4) Investigate the biological consequences of the formation of CIC containing Gal-deficient IgA1 and IgG. With GalNAc-Ser/Thr specificity; 5) Determine whether immune complexes composed of Gal-deficient IgA1IgG with GalNAc-Ser/Thr binding activity are present in mesangial deposits of patients with IgAN; and 6) Correlate levels of Gal-deficient serum or secretory IgA1 and levels of IgG, IgA1, or IgM antibodies with GalNAc-Ser/Thr specificity with disease activity. Results of these studies may lead to the elucidation of molecular defects of IgA1 in IgAN and provide experimental basis for rational approach to the treatment. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: IMPROVED OUTCOME PREDICTION IN GALACTOSEMIC NEWBORNS Principal Investigator & Institution: Konopka, Stanley J.; Advanced Breath Diagnostics, Llc 105 Westpark Dr, Ste 150 Brentwood, Tn 37027 Timing: Fiscal Year 2003; Project Start 12-SEP-1996; Project End 31-MAR-2005 Summary: (provided by applicant): Galactosemia is a potentially lethal, but preventable, disease of newborns. In Phase I of this grant, we demonstrated that a 13Cgalactose breath test could be used to assess the degree of impairment of whole body galactose oxidation in more than 90 galactosemic children with a broad spectrum of mutations in the human GALT gene that codes for galactose-l-phosphate uridyltransferase (E C 2 7 7 12). We further demonstrated that this test could be adapted for use in newborn infants with results comparable to those in older children. In Phase II, we will undertake the pre-commercial manufacture and packaging of unit substrate doses for implementation of a field program for secondary screening in the state of Georgia. This program will test the efficacy of outpatient breath testing, using an automated interactive breath collection device and the analysis of breath samples by a new, low-cost mass spectrometer developed for use at the point of care. The results of this crib-side test will be compared with the biochemical and molecular genotyping tests currently used to confirm or deny the diagnosis of infants with an initial positive statescreen test for galactosemia. A rapid assessment of the degree of functional impairment (which is only indirectly predicted from the biochemical and molecular work-up) will enable the physician to differentiate newborns at life-threatening risk from variants of galactosemia before they are exposed to galactose. Implementation of a newly developed 13C-galactose breath test will provide a valuable cost-effective population screening test to measure the degree of impaired galactose metabolism in newborn infants, guide their dietary therapy, and aid in their long-term prognosis. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MECHANISMS OF ENZYMATIC REACTIONS Principal Investigator & Institution: Frey, Perry A.; Professor; Institute for Enzyme Research; University of Wisconsin Madison 750 University Ave Madison, Wi 53706 Timing: Fiscal Year 2002; Project Start 01-APR-1978; Project End 30-JUN-2003 Summary: The long term objective is to elucidate the mechanisms by which binding energy in enzyme-substrate complexes facilitates enzymatic catalysis. A global approach will be adopted in coordinated studies of four enzymes that participate in carbohydrate metabolism and phosphotransfer, UDP- galactose 4-epimerase (Ga1E), galactose-1-

Studies

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phosphate uridlyltransferase (Ga1T), galactokinase (Ga1K), dTDP-glucose 4,6dehydratase (dehydratase) and human Fhit, a putative tumor suppressor. Chemical, kinetic, spectroscopic, mutagenic, and crystallographic methods will be employed. Galactose metabolism is essential in all living cells and presents fundamental questions bearing on binding energy and catalysis. Cells must break galactose down for use as a fuel to produce galactose for glycoconjugates. One manifestation of the importance of galactose metabolism is the metabolic defect underlying galactosemia, in which galactose metabolism is impaired by defects in GalT. Research on three enzymes of galactose metabolism will be emphasized. The enzymes from E. coli will be studied as models for the mammalian enzymes, which are homologous. The principle objective in studies of Ga1E will be to describe the molecular basis for the enhancement of the chemical reactivity of the niacin- co-enzyme NAD+ by the use of binding energy between the UDP-moiety of substrates and the enzyme. Another Ga1E objective is to elucidate the mechanism of general acid/base catalysis, which appears to be carried out by tyrosine 149 and serine 124. The structural basis for a charge-transfer interaction between NAD+ and the enzyme will be determined. Research on dehydratase will be compared and contrast its biological mechanism with that of Ga1E. The objectives for research on Ga1T include the elucidation of how binding energy is used to stabilize the uridylyl-enzyme intermediate, how metal ions stabilize the active conformation, and how specific galactosemia mutations undermine the enzymatic activity. The standard free energy for the formation of the uridylyl-enzyme in site-directed mutant forms will be compared with wild-type enzyme to investigate binding interactions that stabilize the intermediate. Research on Fhit is directed toward elucidating its structural and mechanistic relationships with GalT. Research on the GalK will be initiated to determine its chemical mechanism and structure. The stereochemical course of phosphotransfer by GalK will be unmasked to determine whether a single or double- displacement mechanism is in full operation. Crystallization trials will be pursued with the objective of determining the first structured in the Ga1K family of sugar phosphotransferases. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MULTI-ANALYTE APPLICATIONS

MICRO-DEVICES

FOR

BIOMEDICAL

Principal Investigator & Institution: Andrade, Joseph D.; Professor; Bioengineering; University of Utah Salt Lake City, Ut 84102 Timing: Fiscal Year 2002; Project Start 01-AUG-2002; Project End 31-JUL-2004 Summary: (provided by applicant): The investigators propose to develop microdevices for the specific chemical analysis of multiple metabolites in small sample volumes of biological fluids. The specificity and sensitivity is provided by specific reactions that couple analytes to bioluminescent-based enzyme reactions and produce light proportional to the analyte concentration. Bioluminescent analytical assays, in a miniaturized and stable format, can measure sub-microMolar concentrations in microliter sample volumes. The goal of the first phase (R21) is to engineer microfluidic structures, develop enzyme packaging and stabilization techniques, and optimize optical detection systems in order to measure two model analyte solutions (galactose and lactate) using bioluminescent reactions. The goal of the second phase (R33) is to implement other bioluminescent assays in the microfluidic detection system, develop specific diagnostic panels, utilize practical biofluid samples and enhance analytical accuracy and precision. The proposed Micro-Analytical System (microAS) will be convenient to operate in point-of-care (POC) and home environments. It will likely evolve to measure up to 100 different metabolites in the submicroMolar to milliMolar

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range from one 1-100 microL biofluid sample, and include customized comprehensive diagnostic panels for basic research, clinical research, and for personal disease and health management. These systems would provide rapid results, facilitate patient empowerment, and reduce health care costs. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: ORGANIC PHOSPHATE METABOLISM IN LENS STRESS & CATARACT Principal Investigator & Institution: Jernigan, Howard M.; Molecular Sciences; University of Tennessee Health Sci Ctr Memphis, Tn 38163 Timing: Fiscal Year 2002; Project Start 01-JAN-1989; Project End 30-APR-2004 Summary: (provided by applicant): The long range goal of the project is to better understand the pathobiochemical causes of cataracts. Cataracts are the leading cause of blindness worldwide, and in the U.S. cataracts are responsible for more surgical procedures than any other cause. Better understanding of the biochemical causes and effects of cataracts eventually may lead to their early diagnosis and nonsurgical treatment. The proposed research focuses on the balance between biological stress and repair processes in lenses. Increased phospholipid (PL) synthesis occurs during formation of diabetic and galactosemic cataracts and some hereditary cataracts. This suggests the hypothesis that one mechanism by which normal lenses resist stress and prevent cumulative deterioration of cells is by regulating PL synthesis in a controlled response to provide the PL necessary for growth and for repair of damaged membranes. Lenses will be subjected to cataractogenic stress in vivo (e.g., galactosemic rats) and in culture (e.g., oxidatively stressed cultured human lens epithelial cells). Sensitive radiotracer techniques will be used to measure PL synthesis in lenses, concentric layers from lenses, and lens cells. The hypothesis predicts that PL synthesis will increase as lenses are stressed and swell, and that it will return to a baseline rate when swelling is reversed. Also, if the increased PL synthesis is for membrane growth or repair, the changes in rates of synthesis of various classes of membrane PLs should be coordinated. Finally, the hypothesis suggests that there is a threshold of stress that exceeds the ability of lenses for membrane repair. Since there is evidence that normal PL synthesis in lenses can be disrupted when stress reaches a threshold level, this could lead to a selfreinforcing cycle of membrane damage, decreased repair, and more membrane damage. If the results of the proposed experiments support these predictions and the hypothesis, then the it may be possible to find means to protect lenses and maintain stress levels below the threshold and prevent cumulative lens damage and cataract. If the hypothesis is false, then the increased PL synthesis in cataracts may only be a symptom of the degenerative process, there may be no threshold stress level, and even very low levels of damage may be cumulative and eventually cataractogenic. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: OXIDATIVE STRESS AND CATARACT FORMATION Principal Investigator & Institution: Varma, Shambhu D.; Professor; Ophthalmology; University of Maryland Balt Prof School Baltimore, Md 21201 Timing: Fiscal Year 2002; Project Start 01-SEP-1978; Project End 30-NOV-2005 Summary: (Adapted from applicant's abstract): The primary objective of the proposal is to study biochemical and pharmacological strategies for preventing cataractogenesis using diabetic and oxidative stress animal models and lens culture. We anticipate that certain physiological alpha keto acids could play such a preventive role, especially

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pyruvate. This is based on our observation that it inhibits polyol synthesis, glycation, AGE formation, and oxidative stress in lens culture and most importantly, its effectiveness against the actual cataract formation in galactosemic animals. We will now test the hypotheses (I) that exogenously administered pyruvate will inhibit cataractogenesis in diabetic rats with high lens aldose reductase (AR) activity, (2) that it will be effective also in diabetic mice with low lens AR, but being subject to ROS and glycation stress, causing structural and functional protein and lipid changes, (3) that the chaperone activity of the alpha-crystallin is decreased by the high levels of fructose, as in the diabetic lens, and (4) that pyruvate will also protect against the combined stress of diabetes and oxidation. The pyruvate effects are attributable to the reactivity of its keto group, situated adjacent to the carboxyl group. Therefore, we hypothesize (5) that other keto acids with greater cell permeability and lower metabolism should be physiologically more effective. Hypotheses #1 to #4 will be verified by the delay in cataract formation in diabetic animals given pyruvate in the diet and drinking water with reference to the controls with comparable hyperglycemia. Basal controls with and without pyruvate will also be run. GSH-peroxidase knockout mice will be used for specific aim #3. The levels of sorbitol, fructose, glycated proteins, AGE, ATP, GSH, malonaldehyde (MDA) and the chaperone activity of alpha-crystallin will be determined in all the groups. Hypothesis #5 will be verified by the relative activity of the keto acids in scavenging ROS, and their effectiveness in preventing lens damage in culture, as indexed by the cation pump activity, and the above biochemical parameters. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: PROTEIN KINASE C GAMMA IN THE LENS Principal Investigator & Institution: Takemoto, Dolores J.; Professor; Biochemistry; Kansas State University 2 Fairchild Hall Manhattan, Ks 665061103 Timing: Fiscal Year 2002; Project Start 01-MAY-2001; Project End 30-APR-2004 Summary: (provided by applicant): Protein kinase C gamma (PKC gamma) is a major isoform of PKC in the lens epithelium and cortex. This PKC phosphorylates the lens gap junction protein, Cx43, causing inhibition of gap junction activity. PKC gamma is specifically decreased during galactosemia, in streptozotocin diabetic rats, and in human diabetic lens. This decrease in PKC gamma would result in an increase in gap junction activity. The specific aims of this proposal are: 1) To determine how PKC gamma is controlled in normal lens epithelial cells by EGF, and by translocation, downregulation, turnover, and expression in response to lipid and calcium. 2) To determine how the control of PKC gamma alters gap junction activity through changes in Cx43 phosphorylation, gap junction activity, and gap junction assembly. Specific aims 1 and 2 will utilize lens cells in culture, overexpression systems, green fluorescent protein-PKC gamma (gfp-PKC gamma), gfp-cys-1 and 2 domains (lipid binding domains of PKC gamma), confocal microscopy, and biochemical studies of PKC gamma regulation. 3) To determine how PKC gamma is decreased during galactosemia and diabetes, and how this decrease affects the gap junctions. These studies will be done in galactosemic and streptozotocin diabetic rats, will include studies on Cx43 and Cx46, and will focus on the lens cortical swelling region which is observed in the rat diabetic model. Changes in gap junction activity have been reported to occur in numerous tissues during diabetes. We have identified PKC gamma as a control point for lens gap junction activity and have determined that this isoform is decreased during diabetes and galactosemia and in human diabetic lens. PKC gamma levels can be restored to normal with an aldose reductase inhibitor, suggesting the presence of osmotic response elements in the PKC gamma gene. When PKC gamma is decreased, the control of lens

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gap junctions may be lost, resulting in damage to the diabetic lens cell. The control of PKC gamma in normal cells and the loss of control in diabetes are the subject of this proposal. This information will provide direction for the design of drugs to prevent the loss of PKC gamma during diabetes. The restoration of normal PKC gamma levels may prevent diabetic cataracts. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: TRACER KINETIC STUDIES OF GALACTOSE METABOLISM IN HEREDITARY GALACTOSEMIA Principal Investigator & Institution: Berry, Gerard T.; Children's Hospital of Philadelphia 34Th St and Civic Ctr Blvd Philadelphia, Pa 191044399 Timing: Fiscal Year 2002 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: PROGRAMS

USC

RESEARCH

CENTER

FOR LIVER DISEASES: PILOT

Principal Investigator & Institution: Kaplowitz, Neil; Chief, Gastroenterology Section; University of Southern California 2250 Alcazar Street, Csc-219 Los Angeles, Ca 90033 Timing: Fiscal Year 2002 Summary: (Adapted from the application) The objective of the P/F program is to attract and support young investigators, with a dual purpose of attracting young scientists to work in digestive diseases and to assist young scientists in the early phase of their careers enabling them to establish a program which an be competitive for future grant support. A secondary objective is to attract established investigators into the digestive disease field. In general, the program makes awards in the range of $20000 to $25000, usually about four or five highest scored projects. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “galactosemia” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for galactosemia in the PubMed Central database:

3 4

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print.

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Molecular analysis of 11 galactosemia patients. by Reichardt JK.; 1991 Dec; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=332510

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PROGESTERONE EFFECTS ON GALACTOSE METABOLISM IN PREPUBERTAL PATIENTS WITH CONGENITAL GALACTOSEMIA AND IN RATS MAINTAINED ON HIGH GALACTOSE DIETS. by Pesch LA, Segal S, Topper YJ.; 1960 Jan; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=290676

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The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. by Henderson H, Leisegang F, Brown R, Eley B.; 2002; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=126267

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with galactosemia, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “galactosemia” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for galactosemia (hyperlinks lead to article summaries): •

"Classic" galactosemia associated with alpha 1-antitrypsin deficiency. Author(s): Karpathios T, Fretzayas A, Nicolaidou P, Haidas S. Source: Clinical Pediatrics. 1983 December; 22(12): 828-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6605228

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A case of galactosemia. Author(s): Purohit KR, Bai YD. Source: Indian Pediatrics. 1967 December; 4(12): 454-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5590716

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A common mutation associated with the Duarte galactosemia allele. Author(s): Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J. Source: American Journal of Human Genetics. 1994 June; 54(6): 1030-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8198125

6

PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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A molecular approach to galactosemia. Author(s): Elsas LJ 2nd, Langley S, Paulk EM, Hjelm LN, Dembure PP. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S21-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671959

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A new method of blood galactose estimation for mass screening of galactosemia. Author(s): Fujimura Y, Kawamura M, Naruse H. Source: The Tohoku Journal of Experimental Medicine. 1981 April; 133(4): 371-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7256730

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A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. Author(s): Lang A, Groebe H, Hellkuhl B, von Figura K. Source: Pediatric Research. 1980 May; 14(5): 729-34. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6247691

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A patient with hereditary galactosemia studied with a screening method for galactose in urine. Author(s): Dahlqvist A, Jagenburg R, Mark A. Source: Acta Paediatr Scand. 1969 May; 58(3): 237-44. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4977384

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A PCR-based method for detecting known mutations in the human UDP galactose-4'epimerase gene associated with epimerase-deficiency galactosemia. Author(s): Henderson JM, Huguenin SM, Cowan TM, Fridovich-Keil JL. Source: Clinical Genetics. 2001 November; 60(5): 350-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11903335

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A prevalent mutation for galactosemia among black Americans. Author(s): Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsas LJ 2nd. Source: The Journal of Pediatrics. 1996 January; 128(1): 89-95. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8551426

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A simple chromatographic screening test for the detection of galactosemia in newborn infants. Author(s): Haworth JC, Barchuk NH. Source: Pediatrics. 1967 April; 39(4): 608-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6022937

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A simple spot screening test for galactosemia. Author(s): Beutler E, Baluda MC. Source: The Journal of Laboratory and Clinical Medicine. 1966 July; 68(1): 137-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4380286

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A study of erythrocyte life-span in galactosemia using Cr 51. Author(s): Bajpai PC, Tripathi TK, Agarwala SC. Source: The Journal of Pediatrics. 1972 May; 80(5): 835-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5018395

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A variant of galactosemia presenting as larger bilateral lenticular opacities in an older child. Author(s): Verma KC, Jamwal DS, Gupta S. Source: Indian Pediatrics. 1979 April; 16(4): 375-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=511314

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Abnormal somatosensory evoked potentials in patients with classic galactosemia: correlation with neurologic outcome. Author(s): Kaufman FR, Horton EJ, Gott P, Wolff JA, Nelson MD Jr, Azen C, Manis FR. Source: Journal of Child Neurology. 1995 January; 10(1): 32-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7769175

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Alternate metabolic pathway in galactosemia. Observations in patient with galactosemia. Author(s): Egan TJ, Wells WW. Source: Am J Dis Child. 1966 April; 111(4): 400-5. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5906050

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An evaluation of a new test kit to screen for galactosemia. Author(s): Jinks DC, Vollmer D, Orfanos A, Guthrie R. Source: Clinical Biochemistry. 1987 October; 20(5): 353-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3319286

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An unusual form of galactosemia: studies on erythrocytes and hair roots. Author(s): de Bruyn CH, Oei TL, Monnens LA, Trijbels JM. Source: Clinical Genetics. 1978 January; 13(1): 8-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=203421

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Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. Author(s): Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW. Source: The Journal of Molecular Diagnostics : Jmd. 2003 February; 5(1): 42-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12552079

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Another biochemical variant of galactosemia. Author(s): Kelly S, Dzierwa C, Baswell D. Source: Experimental and Molecular Pathology. 1968 August; 9(1): 23-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5667365

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Association of Escherichia coli sepsis and galactosemia in neonates. Author(s): Barr PH. Source: The Journal of the American Board of Family Practice / American Board of Family Practice. 1992 January-February; 5(1): 89-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1561928

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Automated fluorometric micromethod for detection of transferase-deficiency galactosemia. Author(s): Frazier DP, Summer GK. Source: The Journal of Laboratory and Clinical Medicine. 1974 February; 83(2): 334-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4810959

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Biochemical and molecular studies of 132 patients with galactosemia. Author(s): Ng WG, Xu YK, Kaufman FR, Donnell GN, Wolff J, Allen RJ, Koritala S, Reichardt JK. Source: Human Genetics. 1994 October; 94(4): 359-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7927329

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Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia. Author(s): Sitzmann FC, Kaloud H. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1976 November 1; 72(3): 343-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=184990

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Borderline galactosemia. Author(s): Pettersson R, Dahlqvist A, Hattevig G, Kjellman B. Source: Acta Paediatr Scand. 1980 November; 69(6): 735-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7211358

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Capillary electrophoresis with laser-induced fluorescence detection for laboratory diagnosis of galactosemia. Author(s): Easley CJ, Jin LJ, Presto Elgstoen KB, Jellum E, Landers JP, Ferrance JP. Source: J Chromatogr A. 2003 July 4; 1004(1-2): 29-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12929958

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Cataracts in galactosemia. The Jonas S. Friedenwald Memorial Lecture. Author(s): Kinoshita JH. Source: Invest Ophthalmol. 1965 October; 4(5): 786-99. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5831988

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Cerebral edema and galactosemia. Author(s): Welch RJ, Milligan DW. Source: Pediatrics. 1987 October; 80(4): 597-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3658581

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Changes in galactosemia screening program. Author(s): West R. Source: J Ark Med Soc. 1996 December; 93(7): 327-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8990762

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Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Author(s): Petry K, Greinix HT, Nudelman E, Eisen H, Hakomori S, Levy HL, Reichardt JK. Source: Biochemical Medicine and Metabolic Biology. 1991 August; 46(1): 93-104. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1931160

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Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Author(s): Reichardt JK, Belmont JW, Levy HL, Woo SL. Source: Genomics. 1992 March; 12(3): 596-600. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1373122

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Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4epimerase. Author(s): Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, FridovichKeil JL. Source: American Journal of Human Genetics. 1997 September; 61(3): 590-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9326324

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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Author(s): Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD. Source: Human Mutation. 1999; 13(6): 417-30. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10408771

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Clinical and biochemical aspects of galactosemia. Author(s): Tolstrup N. Source: Scand J Clin Lab Invest Suppl. 1966; 18: 148-55. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5334998

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Clinical and biochemical evidence of skeletal muscle involvement in galactose-1phosphate uridyl transferase deficiency. Author(s): Bresolin N, Comi GP, Fortunato F, Meola G, Gallanti A, Tajana A, Velicogna M, Gonano EF, Ninfali P, Pifferi S, et al. Source: Journal of Neurology. 1993 May; 240(5): 272-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8326330

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Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with belownormal transferase activity. Author(s): Pesce MA, Bodourian SH. Source: Clinical Chemistry. 1982 February; 28(2): 301-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6276048

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Clinical variants of galactosemia. Author(s): Hsia DY. Source: Metabolism: Clinical and Experimental. 1967 May; 16(5): 419-37. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5337683

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Clouds over galactosemia. Author(s): Komrower GM. Source: Lancet. 1983 January 22; 1(8317): 190. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6130236

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Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Author(s): Kaufman FR, McBride-Chang C, Manis FR, Wolff JA, Nelson MD. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S2-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671958

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Comorbidity of schizophrenia and galactosemia: effective clozapine treatment with weight gain. Author(s): Haasen C, Lambert M, Yagdiran O, Karow A, Krausz M, Naber D. Source: International Clinical Psychopharmacology. 2003 March; 18(2): 113-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12598824

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Composition of milk produced by a mother with galactosemia. Author(s): Forbes GB, Barton LD, Nicholas DL, Cook DA. Source: The Journal of Pediatrics. 1988 July; 113(1 Pt 1): 90-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3385537

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Computed tomographic demonstration of cerebral edema in a child with galactosemia. Author(s): Belman AL, Moshe SL, Zimmerman RD. Source: Pediatrics. 1986 October; 78(4): 606-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3763268

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Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method. Author(s): Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 2000 August; 298(1-2): 175-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10876013

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Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. Author(s): Kaufman FR, Xu YK, Ng WG, Donnell GN. Source: The Journal of Pediatrics. 1988 May; 112(5): 754-6. Erratum In: J Pediatr 1989 August; 115(2): 329. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2834527

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Cranial CT in galactosemia. Author(s): Marano GD, Sheils WS Jr, Gabriele OF, Klingberg WG. Source: Ajnr. American Journal of Neuroradiology. 1987 November-December; 8(6): 1150-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3120550

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Crohn disease in an adolescent with galactosemia. Author(s): Marx G, Seidman EG, Deslandres C. Source: Journal of Pediatric Gastroenterology and Nutrition. 2002 February; 34(2): 216-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11840043

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Curious neurologic sequelae in galactosemia. Author(s): Lo W, Packman S, Nash S, Schmidt K, Ireland S, Diamond I, Ng W, Donnell G. Source: Pediatrics. 1984 March; 73(3): 309-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6701054

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Current controversies about galactosemia. Author(s): Lehotay DC. Source: Clinical Biochemistry. 1993 April; 26(2): 69-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8485859

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Cystathioninuria in galactosemia and certain types of liver disease. Author(s): Lieberman E, Shaw KN, Donnell GN. Source: Pediatrics. 1967 November; 40(5): 828-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6075655

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Defective galactosylation in galactosemia: is low cell UDPgalactose an explanation? Author(s): Segal S. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S65-71. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671968

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Defective galactosylation of serum transferrin in galactosemia. Author(s): Charlwood J, Clayton P, Keir G, Mian N, Winchester B. Source: Glycobiology. 1998 April; 8(4): 351-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9499382

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Delay of liver maturation as a cause of transient neonatal galactosemia. Author(s): Ono H, Mawatari H, Mizoguchi N, Eguchi T, Sakura N, Hamakawa M. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 2000 February; 42(1): 61-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10703237

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Detection of inborn errors of metabolism: galactosemia. Author(s): Hill HZ, Puck TT. Source: Science. 1973 March 16; 179(78): 1136-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4689218

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Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. Author(s): Misumi H, Wada H, Kawakami M, Ninomiya H, Sueishi T, Ichiba Y, Shohmori T. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1981 October 8; 116(1): 101-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7318169

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Developmental aspects of galactosemia from infancy to childhood. Author(s): Fishler K, Koch R, Donnell GN, Wenz E. Source: Clinical Pediatrics. 1980 January; 19(1): 38-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7351095

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Diet does not ensure normal development in galactosemia. Author(s): Widhalm K, Miranda da Cruz BD, Koch M. Source: Journal of the American College of Nutrition. 1997 June; 16(3): 204-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9176825

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Differences on treating children with galactosemia. Author(s): Allen RJ, Schaefer AM, Jacobson J. Source: Journal of the American Dietetic Association. 1993 October; 93(10): 1102, 1104. Erratum In: J Am Diet Assoc 1994 February; 94(2): 145. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8409126

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Duarte variant-galactosemia heterozygote. Repository identification No. GM-1996. Author(s): Donnell GN, Ng WG, Alfi OS, Greene AE, Coriell LL. Source: Cytogenetics and Cell Genetics. 1977; 19(1): 53-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=891264

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Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia. Author(s): Kaufman FR, Loro ML, Azen C, Wenz E, Gilsanz V. Source: The Journal of Pediatrics. 1993 September; 123(3): 365-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8355111

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Effect of lactation in a mother with galactosemia. Author(s): Brivet M, Raymond JP, Konopka P, Odievre M, Lemonnier A. Source: The Journal of Pediatrics. 1989 August; 115(2): 280-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2754558

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Effects of experimental galactosemia on the measured serotonin receptor activity of rat brain. Author(s): Wild G, Woolley DW, Gommi BW. Source: Biochemistry. 1967 June; 6(6): 1671-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6035908

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Effects of galactosemia in utero. Author(s): Holton JB. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S77-81. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671971

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Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia. Author(s): Schapira F, Kaplan JC. Source: Biochemical and Biophysical Research Communications. 1969 May 22; 35(4): 451-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5788501

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Enamel hypoplasia in children with galactosemia associated with periods of poor control. Author(s): Benusis KP, Pueschel SM, Hum C. Source: Asdc J Dent Child. 1978 January-February; 45(1): 73-5. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=344360

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Escherichia coli septicemia in neonates with galactosemia. Author(s): Shurin SB. Source: The New England Journal of Medicine. 1977 December 22; 297(25): 1403-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=337139

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Estimates of uridine diphosphate hexoses in erythrocytes: implications for galactosemia. Author(s): Kirkman HN Jr, Clemons EH. Source: The Journal of Pediatrics. 1993 February; 122(2): 257-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8429444

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Estimation of amniotic cell galactose-1-phosphate uridyltransferase for prenatal diagnosis of galactosemia in Taiwan. Author(s): Chen SC, Chu WC, Yang ML, Ng HT. Source: Taiwan Yi Xue Hui Za Zhi. 1984 January; 83(1): 113-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6327878

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Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia. Author(s): Sitzmann FC, Schmid RD, Kaloud H. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1977 March 1; 75(2): 313-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=191219

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Expression of galactose-1-p-uridyltransferase in Chinese hamster x human galactosemia somatic cell hybrids. Author(s): Sparkes RS, Mohandas T, Sparkes MC, Shulkin JD. Source: Biochemical Genetics. 1979 August; 17(7-8): 683-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=231967

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Expression of human inositol monophosphatase suppresses galactose toxicity in Saccharomyces cerevisiae: possible implications in galactosemia. Author(s): Mehta DV, Kabir A, Bhat PJ. Source: Biochimica Et Biophysica Acta. 1999 August 30; 1454(3): 217-26. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10452956

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False-normal assays for galactosemia in a neonate with cataracts. Author(s): Weinberg DA, Simon JW, Cowger ML. Source: American Journal of Ophthalmology. 1985 August 15; 100(2): 342-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4025481

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Field test of galactosemia screening methods in newborn infants. Author(s): Beutler E, Irwin HR, Blumenfeld CM, Goldenburg EW, Day RW. Source: Jama : the Journal of the American Medical Association. 1967 February 13; 199(7): 501-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6071286

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Florida newborn screening for galactosemia. Author(s): DeClue TJ, Malone JI, Tedesco TA. Source: J Fla Med Assoc. 1991 June; 78(6): 369-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1831492

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Fluorescent spot screening test for galactosemia: increased sensitivity. Author(s): Gitzelmann R, Schneller I. Source: Z Klin Chem Klin Biochem. 1973 January; 11(1): 56-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4804143

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Fluorometric screening procedure for galactosemia utilizing the autoanalyzer. Author(s): Hochella NJ, Hill JB. Source: Clinical Chemistry. 1969 October; 15(10): 949-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5348510

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Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia. Author(s): Gitzelmann R. Source: Pediatric Research. 1969 July; 3(4): 279-86. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5807057

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Fructose-induced hyperuricemia: observations in normal children and in patients with hereditary fructose intolerance and galactosemia. Author(s): Kogut MD, Roe TF, Ng W, Nonnel GN. Source: Pediatric Research. 1975 October; 9(10): 774-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1187240

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Fulminant hepatitis B and neonatal hepatitis with galactosemia-like presentation. Author(s): Vajro P, Fontanella A, Tedesco M, Vecchione R, D'Armiento M. Source: Clinical Pediatrics. 1991 March; 30(3): 191-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2009726

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Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. Author(s): Elsas LJ, Lai K, Saunders CJ, Langley SD. Source: Molecular Genetics and Metabolism. 2001 April; 72(4): 297-305. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11286503

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Galactitol in galactosemia. Author(s): Jakobs C, Schweitzer S, Dorland B. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S50-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671965

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Galactose and galactitol in the urine of children with compound heterozygosity for Duarte variant and classical galactosemia (GtD/gt) after an oral galactose load. Author(s): Schwarz HP, Schaefer T, Bachmann C. Source: Clinical Chemistry. 1985 March; 31(3): 420-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3971562

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Galactose and galactose-1-phosphate spot test for galactosemia screening. Author(s): Misuma H, Wada H, Kawakami M, Ninomiya H, Shohmori T. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1981 March 19; 111(1): 27-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7014038

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Galactose content of baby food meats: considerations for infants with galactosemia. Author(s): Weese SJ, Gosnell K, West P, Gropper SS. Source: Journal of the American Dietetic Association. 2003 March; 103(3): 373-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12616263

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Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia. Author(s): Schwarz HP, Zuppinger KA, Zimmerman A, Dauwalder H, Scherz R, Bier DM. Source: The Journal of Pediatrics. 1982 May; 100(5): 704-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7069531

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Galactose utilization in galactosemia. Author(s): Petricciani JC, Binder MK, Merril CR, Geier MR. Source: Science. 1972 March 24; 175(28): 1368-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5059566

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Galactose-1-phosphate in the pathophysiology of galactosemia. Author(s): Gitzelmann R. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S45-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671964

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Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. Author(s): Levy HL, Sepe SJ, Walton DS, Shih VE, Hammersen G, Houghton S, Beutler E. Source: The Journal of Pediatrics. 1978 March; 92(3): 390-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=632977

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Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods. Author(s): De Bruyn CH, Raymakers C, Wensing A, Oei TL. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1977 July 1; 78(1): 145-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=884844

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Galactosemia and alpha-1-antitrypsin deficiency. Author(s): Taylor F, Rumsby G, Whitfield A, De Silva V, Hjelm M. Source: Clinical Pediatrics. 1985 November; 24(11): 641. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3876906

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Galactosemia and hypothyroidism. Author(s): von Petrykowski W. Source: The Journal of Pediatrics. 1984 September; 105(3): 509. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6470882

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Galactosemia and in vitro fertilization. Author(s): Fishel S. Source: Fertility and Sterility. 1988 December; 50(6): 997-1000. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3203768

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Galactosemia and obstructive hydrocephalus. Author(s): Chudwin D, Copps S, Annis B. Source: Wis Med J. 1979 October; 78(10): 26-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=524901

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Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency. Author(s): Vaca G, Sanchez-Corona J, Medina C, Olivares N, Rivera H, Hernandez A, Ibarra B, Sotomayor JM, Cantu JM. Source: Arch Invest Med (Mex). 1978; 9(3): 477-84. English, Spanish. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=568459

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Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene. Author(s): Wadelius C, Lagerkvist A, Molin AK, Larsson A, von Dobeln U, Pettersson U. Source: Genomics. 1993 August; 17(2): 525-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8406510

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Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. Author(s): Garibaldi L, Superti-Furga A, Borrone C. Source: The Journal of Pediatrics. 1986 December; 109(6): 1074-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3783336

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Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. Author(s): Garibaldi LR, Canini S, Superti-Furga A, Lamedica G, Filocamo M, Marchese N, Borrone C. Source: The Journal of Pediatrics. 1983 December; 103(6): 927-30. Erratum In: J Pediatr 1986 December 109(6): 1074. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6549612

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Galactosemia detection from phenylketonuria screening. Author(s): Henderson MJ, Shapiro L, McCowan C. Source: Clinical Chemistry. 1988 January; 34(1): 188-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3338165

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Galactosemia identified in newborn screening program; clinical and biochemical characteristics. Author(s): Kelly S. Source: N Y State J Med. 1980 November; 80(12): 1836-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6939992

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Galactosemia in a 24-year-old man; detection by enzyme studies. Author(s): Sparkes RS, Beutler E, Wright SW. Source: Am J Ment Defic. 1968 January; 72(4): 590-3. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5637893

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Galactosemia in infancy: diagnosis, management, and prognosis. Author(s): Chung MA. Source: Pediatric Nursing. 1997 November-December; 23(6): 563-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9429512

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Galactosemia in the newborn. Author(s): Erickson GW, Staunton HA, Straup NF. Source: J Indiana State Med Assoc. 1966 October; 59(10): 1180-3. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5978359

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Galactosemia screening of newborns in Massachusetts. Author(s): Shih VE, Levy HI, Karolkewicz V, Houghton S, Efron ML, Isselbacher KJ, Beutler E, MacCready RA. Source: The New England Journal of Medicine. 1971 April 8; 284(14): 753-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4926707

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Galactosemia unsolved. Author(s): Segal S. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S97-102. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671976

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Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy. Author(s): Schaub J, Remberger K, Endres W, Bremer HJ. Source: Helv Paediatr Acta. 1976 June; 31(1): 67-76. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=939702

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Galactosemia with rubella infection. Author(s): Diwakar KK, Rao R. Source: Indian Pediatrics. 1997 October; 34(10): 941-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9567560

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Galactosemia. Author(s): Ramesh S, Krishnan BR. Source: Indian Pediatrics. 1991 July; 28(7): 789-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1800354

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Galactosemia. Author(s): Copening TB. Source: J Kans Med Soc. 1971 January; 72(1): 26-33. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5540562

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Galactosemia. Author(s): Beutler E. Source: The American Journal of Clinical Nutrition. 1968 September; 21(9): 923-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5675854

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Galactosemia. A report of two fatal cases with giant cell transformation of the liver in one. Author(s): Suzuki H, Gilbert EF, Anido V, Jones B, Klingberg WG. Source: Arch Pathol. 1966 December; 82(6): 602-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5922676

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Galactosemia. Repository identification Nos. GM-438 to GM-442. Author(s): Kaffe S, Beratis NG, Hirschhorn K, Greene AE, Coriell LL. Source: Cytogenetics and Cell Genetics. 1976; 17(1): 62-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=181209

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Galactosemia. Repository identification Nos. GM-52 and GM-53. Author(s): Mellman WJ, Tedesco TA, Greene AE, Coriell LL. Source: Cytogenetics and Cell Genetics. 1975; 15(3): 198-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1192846

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Galactosemia: a psycho-social perspective. Author(s): Gershen JA. Source: Mental Retardation. 1975 August; 13(4): 20-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1160608

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Author(s): Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP. Source: American Journal of Human Genetics. 1995 March; 56(3): 630-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7887416

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Galactosemia: a treatable metabolic disorder. Author(s): Afzal M. Source: J Coll Physicians Surg Pak. 2003 February; 13(2): 114-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12685959

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Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency. Author(s): Tedesco TA, Miller KL. Source: Science. 1979 September 28; 205(4413): 1395-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=472754

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Galactosemia: an inborn error of metabolism. Author(s): Smith EJ. Source: The Nurse Practitioner. 1980 March-April; 5(2): 8-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7360422

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Galactosemia: clinical and pathologic features, tissue staining patterns with labeled galactose- and galactosamine-binding lectins, and possible loci of nonenzymatic galactosylation. Author(s): Landing BH, Ang SM, Villarreal-Engelhardt G, Donnell GN. Source: Perspectives in Pediatric Pathology. 1993; 17: 99-124. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7686293

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Galactosemia: clinical features, diagnosis and management. A case report. Author(s): Lewis V, Welch F, Cherry F, Flood E, Marble M. Source: J La State Med Soc. 1995 June; 147(6): 262-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7642981

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Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency. Author(s): Trbusek M, Francova H, Kozak L. Source: Human Genetics. 2001 July; 109(1): 117-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11479743

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Galactosemia: early structural changes in the liver. Author(s): Medline A, Medline NM. Source: Can Med Assoc J. 1972 November 4; 107(9): 877-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4653934

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Galactosemia: evaluation with MR imaging. Author(s): Nelson MD Jr, Wolff JA, Cross CA, Donnell GN, Kaufman FR. Source: Radiology. 1992 July; 184(1): 255-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1319076

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Galactosemia: evidence for a structural gene mutation. Author(s): Tedesco TA, Mellman WJ. Source: Science. 1971 May 14; 172(984): 727-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4995463

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Galactosemia: how does long-term treatment change the outcome? Author(s): Gitzelmann R, Steinmann B. Source: Enzyme. 1984; 32(1): 37-46. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6479120

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Galactosemia: progress in neonatal screening in Missouri. Author(s): Haibach H, Woodruff CW, Harris DJ, Baumgartner JH. Source: Mo Med. 1986 May; 83(5): 271-4. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3507595

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Galactosemia: promise, frustration and challenge. Author(s): Matalon R. Source: Journal of the American College of Nutrition. 1997 June; 16(3): 190-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9176823

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Galactosemia: screening and diagnosis. Author(s): Beutler E. Source: Clinical Biochemistry. 1991 August; 24(4): 293-300. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1959220

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Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy. Author(s): Holton JB, de la Cruz F, Levy HL. Source: The Journal of Pediatrics. 1993 December; 123(6): 1009-14. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8229508

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Galactosemia--a case report and review of the literature. Author(s): Woon KY, Tock EP, Wong HB. Source: J Singapore Paediatr Soc. 1980; 22(1-4): 89-99. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6763971

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Galactosemia--a clinical and enzymological study in a family. Author(s): Bajpai PC, Tripathi TK, Teotia M, Saxena KC. Source: Indian J Pediatr. 1971 December; 38(287): 449-54. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5144578

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Galactosemia--to screen or not to screen? Author(s): Hansen TW, Lie SO. Source: Pediatrics. 1988 February; 81(2): 327-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3340488

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Ganglioside patterns in galactosemia. Author(s): Witting LA, Haberland C, Brunngraber EG. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1972 March; 37: 387-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5022102

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Genetic basis of galactosemia. Author(s): Reichardt JK. Source: Human Mutation. 1992; 1(3): 190-6. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1301925

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Gonadal function and ovarian galactose metabolism in classic galactosemia. Author(s): Kaufman FR, Xu YK, Ng WG, Silva PD, Lobo RA, Donnell GN. Source: Acta Endocrinol (Copenh). 1989 February; 120(2): 129-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2492704

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Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance. Author(s): Howard NJ, Monaghan H, Martin JM. Source: Acta Paediatr Scand. 1981 September; 70(5): 695-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7324920

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Hepatic transplantation in galactosemia. Author(s): Otto G, Herfarth C, Senninger N, Feist G, Post S, Gmelin K. Source: Transplantation. 1989 May; 47(5): 902-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2541522

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Hereditary galactosemia. Author(s): Hansen RG. Source: Jama : the Journal of the American Medical Association. 1969 June 16; 208(11): 2077-82. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4890692

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Heterozygous state of galactosemia with clinical signs of the disease? Author(s): Ionasescu V, Luca N. Source: J Genet Hum. 1969 May; 17(1): 53-64. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5808540

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HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients. Author(s): Xu YK, Kaufman FR, Donnell GN, Giudici T, Alfi O, Ng WG. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1995 August 31; 240(1): 21-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8582057

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Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Author(s): Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J. Source: Molecular Genetics and Metabolism. 1998 January; 63(1): 26-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9538513

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Hypergonadotropic hypogonadism in female patients with galactosemia. Author(s): Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Source: The New England Journal of Medicine. 1981 April 23; 304(17): 994-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6782485

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Hypergonadotropic hypogonadism secondary to classical galactosemia. Author(s): Simmons CL, Toffle RC. Source: W V Med J. 1988 March; 84(3): 63-5. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3369154

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Identification and characterization of a mutation, in the human UDP-galactose-4epimerase gene, associated with generalized epimerase-deficiency galactosemia. Author(s): Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL. Source: American Journal of Human Genetics. 1999 February; 64(2): 462-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9973283

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Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Author(s): Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas JL 2nd. Source: American Journal of Human Genetics. 1995 March; 56(3): 640-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7887417

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Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Author(s): Seyrantepe V, Ozguc M, Coskun T, Ozalp I, Reichardt JK. Source: Human Mutation. 1999; 13(4): 339. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10220154

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Improved method of mass-screening for galactosemia. Author(s): Scherz R, Pelugshaupt R, Butler RB. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1972 June; 39(1): 109-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4402640

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In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. Author(s): Berry GT, Hunter JV, Wang Z, Dreha S, Mazur A, Brooks DG, Ning C, Zimmerman RA, Segal S. Source: The Journal of Pediatrics. 2001 February; 138(2): 260-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11174626

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In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy. Author(s): Moller HE, Ullrich K, Vermathen P, Schuierer G, Koch HG. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S8-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671972

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Incidence of galactosemia at birth in New York State. Author(s): Kelly S, Burns J, Desjardins L. Source: American Journal of Epidemiology. 1974 January; 99(1): 8-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4811177

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Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia. Author(s): Bohles H, Schadle J, Endres W, Shin YS, Kollmann F, Bender SW, Kruse K. Source: Padiatr Padol. 1987; 22(1): 25-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3587991

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Increased intracranial pressure in galactosemia. Consider this diagnosis with a bulging fontanel, hepatomegaly, and failure to thrive. Author(s): Vogel R, Gaifman M, Nitzan M. Source: Clinical Pediatrics. 1976 April; 15(4): 386-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1253522

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Increased mannitol excretion in controlled hereditary galactosemia. Author(s): Blau K. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1972 May; 38(2): 441-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5026361

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Increased serum urate in galactosemia patients after a galactose load: a possible role of nucleotide deficiency in galactosemic liver injury. Author(s): Forster J, Schuchmann L, Hans C, Niederhoff H, Kunzer W, Keppler D. Source: Klin Wochenschr. 1975 December 15; 53(24): 1169-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1214453

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Infant screening for galactosemia in Florida. Author(s): Tedesco TA. Source: J Fla Med Assoc. 1983 September; 70(9): 783-5. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6631396

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Insights into the pathogenesis of galactosemia. Author(s): Leslie ND. Source: Annual Review of Nutrition. 2003; 23: 59-80. Epub 2003 April 09. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12704219

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Intellectual and personality development in children with galactosemia. Author(s): Fishler K, Donnell GN, Bergren WR, Koch R. Source: Pediatrics. 1972 September; 50(3): 412-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5056414

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Interference by antibiotics with neonatal screening for galactosemia. Author(s): Clemens P, Voltmer C, Plettner C. Source: The Journal of Pediatrics. 1986 October; 109(4): 713-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3761092

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Interference by third-generation cephalosporins with neonatal screening for galactosemia. Author(s): Schunk JP, Bradley JS, Buist NR, Skeels MR. Source: The Journal of Pediatrics. 1988 May; 112(5): 842. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3283316

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Introduction of newborn screening for galactosemia to Arkansas. Author(s): West R, Gibson JB. Source: J Ark Med Soc. 1996 March; 92(10): 501-4. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8867237

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Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants. Author(s): Schapira F, Gregori C, Banroques J, Vidailhet M, Despoisses S, Vigneron C. Source: Human Genetics. 1979 January 19; 46(1): 89-96. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=429011

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Kinetic fluorometric micromethod for screening of newborns for galactosemia--a way to improve assay specificity? Author(s): Tuuminen T, Akerlind G. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1992 November 30; 212(3): 155-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1477979

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Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Author(s): Suzuki M, West C, Beutler E. Source: Human Genetics. 2001 August; 109(2): 210-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11511927

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Letter: Galactosemia and galactonolactone: further biochemical observations. Author(s): Friedman TB, Yarkin RJ, Merril CR. Source: Science. 1974 February 22; 183(126): 764-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4821245

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Letter: Negative urine sugars in galactosemia. Author(s): Harris RC. Source: Pediatrics. 1974 May; 53(5): 768. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4826738

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Letter: Unconjugated hyperbilirubinemia in galactosemia. Author(s): Levy HL, Pueschel SM, Hubbell JP Jr. Source: The New England Journal of Medicine. 1975 April 24; 292(17): 923-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1117919

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Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations. Author(s): Lin HC, Reichardt JK. Source: Human Genetics. 1995 March; 95(3): 353-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7868133

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Liver failure in galactosemia successfully treated by exchange blood transfusion. Author(s): Haworth JC, Coodin FJ. Source: Can Med Assoc J. 1971 August 7; 105(3): 301 Passim. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5563350

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Loss of transferase enzyme activity of transfused erythrocytes in galactosemia. Author(s): Schwartz RP, Roesel RA, Blankenship PR, Hall WK. Source: Southern Medical Journal. 1975 March; 68(3): 301-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1118770

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Low serum thyroxine concentrations in babies with galactosemia. Author(s): Berger HM, Vlasveld L, Van Gelderen HH, Ruys JH. Source: The Journal of Pediatrics. 1983 December; 103(6): 930-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6644428

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Mannitol excretion in galactosemia patients. Author(s): Ng WG, Donnell GN, Bergren WR. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1975 October 1; 64(1): 39-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1183024

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Mass screening of galactosemia: improved Beutler Test using automated quantitative fluorescence assay. Author(s): Fujimoto A, Okano Y, Miyagi T, Isshiki G, Oura T. Source: Southeast Asian J Trop Med Public Health. 1999; 30 Suppl 2: 69. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11400789

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Measurements of uridine diphosphate hexoses in galactosemia. Author(s): Ng WG, Xu YK, Kaufman FR, Donnell GN. Source: The Journal of Pediatrics. 1993 December; 123(6): 1015-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8229509

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Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy. Author(s): Wehrli SL, Reynolds R, Chen J, Yager C, Segal S. Source: Molecular Genetics and Metabolism. 2002 December; 77(4): 296-303. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12468275

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Microassay for screening newborns for galactosemia with use of a fluorometric microplate reader. Author(s): Yamaguchi A, Fukushi M, Mizushima Y, Shimizu Y, Takasugi N, Arashima S, Ohyanagi K. Source: Clinical Chemistry. 1989 September; 35(9): 1962-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2776326

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Milk produced by mothers with galactosemia. Author(s): Ng WG, Xu YK, Kaufman F, Donnell GN. Source: The Journal of Pediatrics. 1989 July; 115(1): 166-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2738786

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Minimizing false positive diagnoses in newborn screening for galactosemia. Author(s): Frazier DM, Clemons EH, Kirkman HN. Source: Biochemical Medicine and Metabolic Biology. 1992 December; 48(3): 199-211. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1476788

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Molecular analysis in newborns from Texas affected with galactosemia. Author(s): Yang YP, Corley N, Garcia-Heras J. Source: Human Mutation. 2002 January; 19(1): 82-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11754113

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Molecular analysis of 11 galactosemia patients. Author(s): Reichardt JK. Source: Nucleic Acids Research. 1991 December; 19(25): 7049-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1766867

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Molecular and biochemical basis of galactosemia. Author(s): Wang BB, Xu YK, Ng WG, Wong LJ. Source: Molecular Genetics and Metabolism. 1998 April; 63(4): 263-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9635294

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Molecular basis for Duarte and Los Angeles variant galactosemia. Author(s): Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ. Source: American Journal of Human Genetics. 1997 February; 60(2): 366-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9012409

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Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. Author(s): Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM. Source: The Journal of Biological Chemistry. 2001 June 8; 276(23): 20617-23. Epub 2001 March 07. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11279193

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Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Author(s): Reichardt JK, Woo SL. Source: Proceedings of the National Academy of Sciences of the United States of America. 1991 April 1; 88(7): 2633-7. Erratum In: Proc Natl Acad Sci U S a 1991 August 15; 88(16): 7457. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2011574

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Molecular characterization of galactosemia (type 1) mutations in Japanese. Author(s): Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G. Source: Human Mutation. 1995; 6(1): 36-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7550229

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Molecular characterization of the H319Q galactosemia mutation. Author(s): Reichardt JK, Novelli G, Dallapiccola B. Source: Human Molecular Genetics. 1993 March; 2(3): 325-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8499924

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Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Author(s): Reichardt JK, Levy HL, Woo SL. Source: Biochemistry. 1992 June 23; 31(24): 5430-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1610789

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Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Author(s): Reichardt JK, Packman S, Woo SL. Source: American Journal of Human Genetics. 1991 October; 49(4): 860-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1897530

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Molecular detection of galactosemia mutations by PCR-ELISA. Author(s): Muralidharan K, Zhang W. Source: Methods in Molecular Biology (Clifton, N.J.). 2003; 217: 111-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12491926

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Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Author(s): Greber-Platzer S, Guldberg P, Scheibenreiter S, Item C, Schuller E, Patel N, Strobl W. Source: Human Mutation. 1997; 10(1): 49-57. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9222760

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Monitoring neonatal hypoglycemia with the Accu-chek advantage II glucose meter: the cautionary tale of galactosemia. Author(s): Newman JD, Ramsden CA, Balazs ND. Source: Clinical Chemistry. 2002 November; 48(11): 2071. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12407002

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Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). Author(s): Kozak L, Francova H, Fajkusova L, Pijackova A, Macku J, Stastna S, Peskovova K, Martincova O, Krijt J, Bzduch V. Source: Human Mutation. 2000 February; 15(2): 206. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10649501

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Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. Author(s): Item C, Hagerty BP, Muhl A, Greber-Platzer S, Stockler-Ipsiroglu S, Strobl W. Source: Pediatric Research. 2002 April; 51(4): 511-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11919338

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Mutations in galactosemia. Author(s): Reichardt JK. Source: American Journal of Human Genetics. 1995 October; 57(4): 978-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7573066

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Neonatal cholestasis syndrome due to galactosemia. Author(s): Kumar M, Yachha SK, Gupta RK. Source: Indian J Gastroenterol. 1996 January; 15(1): 26-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8840625

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Neonatal hypothyroidism, phenylketonuria and galactosemia screening in metropolitan Shanghai. Author(s): Chen RG, Sun M, Ni YY, Pan XS, Chen JZ, Zhang YF, Liu H, Zhang MH, Xu HZ, Wu YL, et al. Source: Chinese Medical Journal. 1984 January; 97(1): 61-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6428834

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Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Author(s): Jensen UG, Brandt NJ, Christensen E, Skovby F, Norgaard-Pedersen B, Simonsen H. Source: Clinical Chemistry. 2001 August; 47(8): 1364-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11468223

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Neurologic complications in galactosemia. Author(s): Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S. Source: Pediatric Neurology. 1992 May-June; 8(3): 217-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1622520

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Newborn mass screening for galactosemia. Author(s): Schweitzer S. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S37-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671962

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Newborn metabolic screening in Minnesota. II. PKU and galactosemia. Author(s): Jenkins MB. Source: Minn Med. 1981 July; 64(7): 429-32, 398. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7266450

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Newborn screening for galactosemia and other galactose metabolic defects. Author(s): Levy HL, Hammersen G. Source: The Journal of Pediatrics. 1978 June; 92(6): 871-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=660351

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Newborn screening for galactosemia in Tennessee. Author(s): Ulm JE. Source: J Tenn Med Assoc. 1992 November; 85(11): 520-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1434621

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Newborn screening for galactosemia: a new method used in Manitoba. Author(s): Greenberg CR, Dilling LA, Thompson R, Ford JD, Seargeant LE, Haworth JC. Source: Pediatrics. 1989 August; 84(2): 331-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2748263

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Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphateuridyltransferase activity. Author(s): Rhode H, Elei E, Taube I, Podskarbi T, Horn A. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1998 June 8; 274(1): 71-87. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9681599

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Normal initial blood galactose levels in a newborn with galactosemia. Author(s): Lipson MH, Russo PJ. Source: Am J Dis Child. 1982 August; 136(8): 747-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7102629

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Nutritional therapy of galactosemia. Management success depends on rigid exclusion of all galactose-containing foods. Author(s): Koch R, Acosta P, Donnell G, Lieberman E. Source: Clinical Pediatrics. 1965 October; 4(10): 571-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5826643

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Galactosemia

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Observations on the influence of orotic acid on galactose metabolism in congenital galactosemia. Author(s): Segal S, Roth H, Blair A. Source: The Journal of Pediatrics. 1966 January; 68(1): 135-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5901339

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Ophthalmic findings in classical galactosemia--a screened population. Author(s): Burke JP, O'Keefe M, Bowell R, Naughten ER. Source: Journal of Pediatric Ophthalmology and Strabismus. 1989 July-August; 26(4): 165-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2760788

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Ovarian androgen secretion in patients with galactosemia and premature ovarian failure. Author(s): Kaufman FR, Donnell GN, Lobo RA. Source: Fertility and Sterility. 1987 June; 47(6): 1033-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2954857

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Ovarian failure in galactosemia. Author(s): Levy HL, Driscoll SG, Porensky RS, Wender DF. Source: The New England Journal of Medicine. 1984 January 5; 310(1): 50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6689742

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Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion. Author(s): Sokol RJ, McCabe ER, Kotzer AM, Langendoerfer SI. Source: Journal of Pediatric Gastroenterology and Nutrition. 1989 February; 8(2): 266-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2540306

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Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion. Author(s): Korson MS, Levy HL. Source: Journal of Pediatric Gastroenterology and Nutrition. 1990 February; 10(2): 272-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2303983

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Pitfalls in the diagnosis of galactosemia. Author(s): Donnell GN. Source: The Journal of Pediatrics. 1973 September; 83(3): 515-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4725165

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Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry. Author(s): Ning C, Segal S. Source: Metabolism: Clinical and Experimental. 2000 November; 49(11): 1460-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11092512

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Plasma insulin and growth hormone in galactosemia. Author(s): Finkelstein JW, Ludan A, Hellman L, Finberg L. Source: Hormones. 1972; 3(4): 214-20. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4653179

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Pregnancy after oocyte donation to a woman with ovarian failure and classical galactosemia. Author(s): Sauer MV, Kaufman FR, Paulson RJ, Lobo RA. Source: Fertility and Sterility. 1991 June; 55(6): 1197-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2037114

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Pregnancy-exaggerated galactosemia and congenital cataracts. Author(s): Ramakrishnan S, Sulochana KN, Punitham R, Kar B, Ravishankar K, Vasanthi SB, Lakshminarayanan P. Source: Indian J Pediatr. 1998 November-December; 65(6): 919-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10773961

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Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia. Author(s): Elsas LJ. Source: Prenatal Diagnosis. 2001 April; 21(4): 302-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11288121

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Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs. Author(s): Shin YS, Endres W, Rieth M, Schaub J. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1983 March 14; 128(2-3): 271-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6303628

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Prenatal diagnosis of galactosemia. Author(s): Jakobs C, Kleijer WJ, Allen J, Holton JB. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S33-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671961

44

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Prenatal diagnosis of galactosemia. Author(s): Schapira F, Gregori C, Boue J, Henrion R, Vigneron C, Vidailhet M. Source: Biomedicine. 1978 June; 29(4): 136-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=687757

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Prenatal diagnosis of galactosemia. Author(s): Ng WG, Donnell GN, Bergren WR, Alfi O, Golbus MS. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1977 February 1; 74(3): 227-35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=188570

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Problems in the diagnosis of transferase and galactokinase deficient galactosemia. Author(s): Pesce MA, Bodourian SH. Source: Ann Clin Lab Sci. 1980 January-February; 10(1): 26-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7362195

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Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Author(s): Wang ZI, Berry GT, Dreha SF, Zhao H, Segal S, Zimmerman RA. Source: Annals of Neurology. 2001 August; 50(2): 266-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11506413

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Pseudotumor cerebri in galactosemia. Author(s): Huttenlocher PR, Hillman RE, Hsia YE. Source: The Journal of Pediatrics. 1970 June; 76(6): 902-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5444582

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Psychological correlates in galactosemia. Author(s): Fishler K, Koch R, Donnell G, Graliker BV. Source: Am J Ment Defic. 1966 July; 71(1): 116-25. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5964014

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Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader. Author(s): Fujimoto A, Okano Y, Miyagi T, Isshiki G, Oura T. Source: Clinical Chemistry. 2000 June; 46(6 Pt 1): 806-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10839768

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Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients. Author(s): Xu YK, Kaufman FR, Donnell GN, Ng WG. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1995 March 31; 235(2): 125-36. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7554267

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Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper. Author(s): Grenier A, Laberge C. Source: Clinical Chemistry. 1973 May; 19(5): 463-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4350016

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Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Author(s): Berry GT, Palmieri MJ, Heales S, Leonard JV, Segal S. Source: Metabolism: Clinical and Experimental. 1992 July; 41(7): 783-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1619998

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Red cell survival in galactosemia. Author(s): Taft LI, Danks DM. Source: The Journal of Pediatrics. 1967 July; 71(1): 149-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5293851

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Red cell survival in galactosemia. Author(s): Wang MY, Desforges JF. Source: The Journal of Pediatrics. 1966 October; 69(4): 619-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5921338

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Rennes-like variant of galactosemia: clinical and biochemical studies. Author(s): Hammersen G, Houghton S, Levy HL. Source: The Journal of Pediatrics. 1975 July; 87(1): 50-57. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1151546

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Results of a survey of carrier women for the galactosemia gene. Author(s): Kaufman FR, Devgan S, Donnell GN. Source: Fertility and Sterility. 1993 October; 60(4): 727-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8405535

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Reversibility of extensive liver damage in galactosemia. Author(s): Applebaum MN, Thaler MM. Source: Gastroenterology. 1975 August; 69(2): 496-502. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1150052

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Risk factors for premature ovarian failure in females with galactosemia. Author(s): Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ 2nd. Source: The Journal of Pediatrics. 2000 December; 137(6): 833-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11113841

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Screening for galactosemia and glucose-6-phosphate dehydrogenase deficiency in newborn infants. Author(s): Nelson K, Hsia DY. Source: The Journal of Pediatrics. 1967 October; 71(4): 582-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4382952

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Screening for galactosemia in New York State. Author(s): Kelly S, Katz S, Burns J, Boylan J. Source: Public Health Reports (Washington, D.C. : 1974). 1970 July; 85(7): 575-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4987471

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Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant. Author(s): Beutler E. Source: Isr J Med Sci. 1973 September-October; 9(9): 1323-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4149512

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Screening for galactosemia: Philippines experience. Newborn Screening Study Group. Author(s): Lee JY, Padilla CD, Chua EL. Source: Southeast Asian J Trop Med Public Health. 1999; 30 Suppl 2: 66-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11405207

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Screening newborn infants for galactosemia. Author(s): Gatti RA, Manfield P, Hsia DY. Source: The Journal of Pediatrics. 1966 December; 69(6): 1126-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5926473

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Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. Author(s): Hsiao KJ, Chen CH, Liu TT, Wu SJ, Plettner C, Clemens P. Source: Taiwan Yi Xue Hui Za Zhi. 1989 January; 88(1): 18-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2787833

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Screening of galactosemia. Author(s): Levy HL, Shih VE. Source: The New England Journal of Medicine. 1972 October 5; 287(14): 723. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5055427

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Screening of newborn infants for galactosemia in British Columbia. Author(s): Kirby LT, Norman MG, Applegarth DA, Hardwick DF. Source: Can Med Assoc J. 1985 May 1; 132(9): 1033-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3986728

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Screening test for galactosemia. Author(s): Benaroch L. Source: Journal of Pediatric Gastroenterology and Nutrition. 1994 August; 19(2): 255-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7815254

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Selective screening for neonatal galactosemia: an alternative approach. Author(s): Shah V, Friedman S, Moore AM, Platt BA, Feigenbaum AS. Source: Acta Paediatrica (Oslo, Norway : 1992). 2001 August; 90(8): 948-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11529548

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Sepsis due to Escherichia coli in neonates with galactosemia. Author(s): Levy HL, Sepe SJ, Shih VE, Vawter GF, Klein JO. Source: The New England Journal of Medicine. 1977 October 13; 297(15): 823-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=331112

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Septicemia in galactosemia. Author(s): Kelly S. Source: Jama : the Journal of the American Medical Association. 1971 April 12; 216(2): 330. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5107922

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Serum hyperosmolality in experimental galactosemia. Author(s): Ricketts HT. Source: Jama : the Journal of the American Medical Association. 1972 March 6; 219(10): 1334. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5066777

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Should Oklahoma screen newborns for galactosemia? Author(s): Karathanos A, Giacoia GP. Source: J Okla State Med Assoc. 1981 June; 74(6): 169-72. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6788914

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Significance of the Duarte/classical galactosemia genetic compound. Author(s): Kelly S. Source: The Journal of Pediatrics. 1979 June; 94(6): 937-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=448540

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Simultaneous determination of gluconolactone, galactonolactone and galactitol in urine by reversed-phase liquid chromatography: application to galactosemia. Author(s): Rakotomanga S, Baillet A, Pellerin F, Baylocq-Ferrier D. Source: Journal of Chromatography. 1991 October 4; 570(2): 277-84. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1797843

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Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia. Author(s): Schuster V, Podskarbi T, Ottensmeier H, Haubner M, Shin YS. Source: Journal of Molecular Medicine (Berlin, Germany). 1998 September; 76(10): 715-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9766850

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Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia. Author(s): Fujimura Y, Kawamura M, Naruse H. Source: The Tohoku Journal of Experimental Medicine. 1982 July; 137(3): 289-95. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7112550

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Speech and language deficits in early-treated children with galactosemia. Author(s): Waisbren SE, Norman TR, Schnell RR, Levy HL. Source: The Journal of Pediatrics. 1983 January; 102(1): 75-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6848731

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Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia. Author(s): Jakobs C, Warner TG, Sweetman L, Nyhan WL. Source: Pediatric Research. 1984 August; 18(8): 714-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6433315

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Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia. Author(s): Kingsley DM, Krieger M, Holton JB. Source: The New England Journal of Medicine. 1986 May 8; 314(19): 1257-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3702926

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Structure-function analyses of a common mutation in blacks with transferasedeficiency galactosemia. Author(s): Lai K, Elsas LJ. Source: Molecular Genetics and Metabolism. 2001 September-October; 74(1-2): 264-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11592823

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Studies of lactose absorption in patients with galactosemia. Author(s): Kogut MD, Donnell GN, Shaw KN. Source: The Journal of Pediatrics. 1967 July; 71(1): 75-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5293862

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Studies on the molecular defect in galactosemia. Author(s): Tedesco TA. Source: Ucla Forum Med Sci. 1975; (18): 467-77. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=173062

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Study of a family with Los Angeles, Duarte, and classical galactosemia variants of galactose-1-phosphate uridyl transferase. Author(s): Applegarth DA, Donnell GN, Mullinger M, Ng WG, Lowry AB. Source: Biochem Med. 1976 April; 15(2): 206-11. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=962903

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The Chicago variant of clinical galactosemia. Author(s): Chacko CM, Wappner RS, Brandt IK, Nadler HL. Source: Human Genetics. 1977 July 26; 37(3): 261-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=885545

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The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. Author(s): Henderson H, Leisegang F, Brown R, Eley B. Source: Bmc Pediatrics [electronic Resource]. 2002 September 2; 2(1): 7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12350230

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The dietary prophylaxis of cataracts in patients with galactosemia. Author(s): Wilson WA, Donnell GN, Bergren WR. Source: Birth Defects Orig Artic Ser. 1976; 12(3): 313-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=953196

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The genetic defect in galactosemia. Author(s): Tedesco TA, Wu JW, Boches FS, Mellman WJ. Source: The New England Journal of Medicine. 1975 April 3; 292(14): 737-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=46587

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The lens, cataracts, and galactosemia. Author(s): Cogan DG. Source: The New England Journal of Medicine. 1973 June 7; 288(23): 1239-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4700558

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The molecular biology of galactosemia. Author(s): Elsas LJ 2nd, Lai K. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 1998 November-December; 1(1): 40-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11261429

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The neuropathology of galactosemia. A histopathological and biochemical study. Author(s): Haberland C, Perou M, Brunngraber EG, Hof H. Source: Journal of Neuropathology and Experimental Neurology. 1971 July; 30(3): 43147. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4105426

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The occurrence of phenylketonuria and galactosemia within the same family. Author(s): Fisch RO, Goosens KA, Tsai MY, Seelig S, Schwichtenberg K. Source: Clinical Pediatrics. 1985 August; 24(8): 456-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4006356

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The resistant ovary syndrome in a patient with galactosemia: a clue to the natural history of ovarian failure. Author(s): Twigg S, Wallman L, McElduff A. Source: The Journal of Clinical Endocrinology and Metabolism. 1996 April; 81(4): 132931. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8636327

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The use of a radioisotopic method for estimation of galactose-1-phosphate in galactosemia. Author(s): Bozkowa K, Duchnowska A. Source: Biochem Med. 1977 February; 17(1): 24-30. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=843340

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Transferase-deficiency galactosemia and the Duarte variant. Author(s): Ng WG, Lee JS, Donnell GN. Source: Jama : the Journal of the American Medical Association. 1987 January 9; 257(2): 187-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3795401

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Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells. Author(s): Andersen MW, Williams VP, Helmer GR Jr, Fried C, Popjak G. Source: Archives of Biochemistry and Biophysics. 1983 April 1; 222(1): 326-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6340612

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Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants. Author(s): Andersen MW, Williams VP, Sparkes MC, Sparkes RS. Source: Human Genetics. 1984; 65(3): 287-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6321325

•

Transient galactosemia detected by neonatal mass screening. Author(s): Ono H, Mawatari H, Mizoguchi N, Eguchi T, Sakura N, Hamakawa M. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 1999 June; 41(3): 281-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10365579

•

Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia. Author(s): Geeganage S, Frey PA. Source: Biochemistry. 1998 October 13; 37(41): 14500-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9772178

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•

Transient thyroid binding globulin deficiency with classic galactosemia. Author(s): Campbell S, Kulin HE. Source: The Journal of Pediatrics. 1984 August; 105(2): 335-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6431070

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Unusual presentation of galactosemia in a 4-month-old child. Author(s): Gnanou JV, Thykadavil VG, Uthappa S. Source: Journal of Tropical Pediatrics. 2001 December; 47(6): 372-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11827309

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Update: newborn screening for galactosemia. Author(s): West R, Gibson JB. Source: J Ark Med Soc. 1996 April; 92(11): 539. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8675486

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Uridine diphosphate glucose and uridine diphosphate galactose in galactosemia. Author(s): Kirkman HN Jr. Source: The Journal of Pediatrics. 1991 August; 119(2): 329-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1861224

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Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. Author(s): Wehrli SL, Berry GT, Palmieri M, Mazur A, Elsas L 3rd, Segal S. Source: Pediatric Research. 1997 December; 42(6): 855-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9396569

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Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Author(s): Palmieri M, Mazur A, Berry GT, Ning C, Wehrli S, Yager C, Reynolds R, Singh R, Muralidharan K, Langley S, Elsas L 2nd, Segal S. Source: Metabolism: Clinical and Experimental. 1999 October; 48(10): 1294-302. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10535394

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Usefulness of per-rectal portal scintigraphy with Tc-99m pertechnetate for galactosemia in infants. Author(s): Shiomi S, Sasaki N, Ikeoka N, Kuroki T, Okano Y, Kawabe J, Ochi H. Source: Ann Nucl Med. 1998 December; 12(6): 375-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9972376

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Verbal dyspraxia and galactosemia. Author(s): Webb AL, Singh RH, Kennedy MJ, Elsas LJ. Source: Pediatric Research. 2003 March; 53(3): 396-402. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12595586

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Verbal dyspraxia in children with galactosemia. Author(s): Nelson D. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S6-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671967

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Verbal dyspraxia in treated galactosemia. Author(s): Nelson CD, Waggoner DD, Donnell GN, Tuerck JM, Buist NR. Source: Pediatrics. 1991 August; 88(2): 346-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1861938

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Vitreous hemorrhage as an ophthalmic complication of galactosemia. Author(s): Levy HL, Brown AE, Williams SE, de Juan E Jr. Source: The Journal of Pediatrics. 1996 December; 129(6): 922-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8969739

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CHAPTER 2. NUTRITION AND GALACTOSEMIA Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and galactosemia.

Finding Nutrition Studies on Galactosemia The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.7 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “galactosemia” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

7 Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.

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The following information is typical of that found when using the “Full IBIDS Database” to search for “galactosemia” (or a synonym): •

Abnormalities of retinal metabolism in diabetes or experimental galactosemia VIII. Prevention by aminoguanidine. Author(s): Kresge Eye Institute, Wayne State University, Detroit, Michigan 48201, USA. [email protected] Source: Kowluru, R A Engerman, R L Kern, T S Curr-Eye-Res. 2000 October; 21(4): 814-9 0271-3683

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Apparent galactose appearance rate in human galactosemia based on plasma [13C]galactose isotopic enrichment. Source: Ning, C. Fenn, P.T. Blair, I.A. Berry, G.T. Segal, S. Mol-genet-metab. Orlando, FL : Academic Press, c1998-. August 2000. volume 70 (4) page 261-271. 1096-7192

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In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy. Author(s): Universitat Munster, Institut fur Physikalische Chemie, Germany. Source: Moller, H E Ullrich, K Vermathen, P Schuierer, G Koch, H G Eur-J-Pediatr. 1995; 154(7 Suppl 2): S8-13 0340-6199

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Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Author(s): Department of Clinical Biochemistry, Statens Serum Institut, 5 Artillerivej, DK-2300 Copenhagen S, Denmark. Source: Jensen, U G Brandt, N J Christensen, E Skovby, F Norgaard Pedersen, B Simonsen, H Clin-Chem. 2001 August; 47(8): 1364-72 0009-9147

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Plasma 1,5-anhydroglucitol in experimental galactosemia in the rat. Author(s): Fourth Department of Medicine, University Central Hospital Unioninkatu, Helsinki, Finland. Source: Pitkanen, E Pitkanen, O M Experientia. 1990 January 15; 46(1): 85-7 0014-4754

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Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Author(s): Department of Pediatrics and Medicine, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, PA 19104. Source: Berry, G T Palmieri, M J Heales, S Leonard, J V Segal, S Metabolism. 1992 July; 41(7): 783-7 0026-0495

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Termination of experimental galactosemia in rats, and progression of retinal metabolic abnormalities. Author(s): Kresge Eye Institute, Wayne State University, Detroit, Michigan 48201, USA. [email protected] Source: Kowluru, R A Koppolu, P Invest-Ophthalmol-Vis-Sci. 2002 October; 43(10): 3287-91 0146-0404

Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: •

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

Nutrition

57

•

The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

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The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

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The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

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The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

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Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

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Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

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Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

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Google: http://directory.google.com/Top/Health/Nutrition/

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Healthnotes: http://www.healthnotes.com/

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Open Directory Project: http://dmoz.org/Health/Nutrition/

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Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

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WebMDHealth: http://my.webmd.com/nutrition

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

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CHAPTER

3.

ALTERNATIVE MEDICINE GALACTOSEMIA

AND

Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to galactosemia. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to galactosemia and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “galactosemia” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to galactosemia: •

Abnormalities of retinal metabolism in diabetes and experimental galactosemia. VII. Effect of long-term administration of antioxidants on the development of retinopathy. Author(s): Kowluru RA, Tang J, Kern TS. Source: Diabetes. 2001 August; 50(8): 1938-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11473058

•

Abnormalities of retinal metabolism in diabetes or experimental galactosemia. VI. Comparison of retinal and cerebral cortex metabolism, and effects of antioxidant therapy. Author(s): Kowluru RA, Engerman RL, Kern TS. Source: Free Radical Biology & Medicine. 1999 February; 26(3-4): 371-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9895229

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Diabetic cataracts and flavonoids. Author(s): Varma SD, Mizuno A, Kinoshita JH. Source: Science. 1977 January 14; 195(4274): 205-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=401544

•

Diminished sugar cataractogenesis by quercetin. Author(s): Beyer-Mears A, Farnsworth PN. Source: Experimental Eye Research. 1979 June; 28(6): 709-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=111955

•

Effect of gossypin, a flavonoid, on the formation of galactose-induced cataracts in rats. Author(s): Parmar NS, Ghosh MN. Source: Experimental Eye Research. 1979 September; 29(3): 229-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=520429

•

Falsely normal value in fluorometric transferase screening of galactosemic blood. A cautionary note. Author(s): Beutler E, Gelbart T. Source: American Journal of Clinical Pathology. 1981 December; 76(6): 841-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6274187

•

Formula allergy and intolerance. Author(s): Kerner JA Jr. Source: Gastroenterology Clinics of North America. 1995 March; 24(1): 1-25. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7729855

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Inositol--clinical applications for exogenous use. Author(s): Colodny L, Hoffman RL. Source: Alternative Medicine Review : a Journal of Clinical Therapeutic. 1998 December; 3(6): 432-47. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9855568

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Leguminosae in the diet: the raffinose-stachyose question. Author(s): Wiesmann UN, Rose-Beutler B, Schluchter R. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S93-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671975

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Magnesium in human milk. Author(s): Dorea JG.

Alternative Medicine 61

Source: Journal of the American College of Nutrition. 2000 April; 19(2): 210-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10763902 •

Management of chronic liver disease. Author(s): Thapa BR. Source: Indian J Pediatr. 1999; 66(1 Suppl): S110-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11132457

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Mechanisms of liver injury relevant to pediatric hepatology. Author(s): Tanner MS. Source: Critical Reviews in Clinical Laboratory Sciences. 2002 February; 39(1): 1-61. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11890207

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Nerve function in galactosaemic rats: effects of evening primrose oil and doxazosin. Author(s): Dines CD, Cotter MA, Cameron NE. Source: European Journal of Pharmacology. 1995 August 15; 281(3): 303-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8521914

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Questions and worries: the voice of the Galactosemia Support Groups. Author(s): Bevington S. Source: European Journal of Pediatrics. 1995; 154(7 Suppl 2): S103-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7671956

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Safety of soy-based infant formulas containing isoflavones: the clinical evidence. Author(s): Merritt RJ, Jenks BH. Source: The Journal of Nutrition. 2004 May; 134(5): 1220S-1224S. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=15113975

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Serotonin receptors VI. Methods for the direct measurement of isolated receptors. Author(s): Woolley DW, Gommi BW. Source: Arch Int Pharmacodyn Ther. 1966 January; 159(1): 8-17. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4958456

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Sugar metabolism in the crystalline lens. Author(s): Chylack LT Jr, Cheng HM. Source: Survey of Ophthalmology. 1978 July-August; 23(1): 26-37. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=100892

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The evaluation of therapeutic efficacy of hachimi-jio-gan (traditional Chinese medicine) to rat galactosemic cataract. Author(s): Kamei A, Hisada T, Iwata S.

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Source: J Ocul Pharmacol. 1987 Fall; 3(3): 239-48. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3503915 •

Vascular filtration function in galactose-fed versus diabetic rats: the role of polyol pathway activity. Author(s): Pugliese G, Tilton RG, Speedy A, Chang K, Province MA, Kilo C, Williamson JR. Source: Metabolism: Clinical and Experimental. 1990 July; 39(7): 690-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2114513

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

•

AOL: http://search.aol.com/cat.adp?id=169&layer=&from=subcats

•

Chinese Medicine: http://www.newcenturynutrition.com/

•

drkoop.com: http://www.drkoop.com/InteractiveMedicine/IndexC.html

•

Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

•

Google: http://directory.google.com/Top/Health/Alternative/

•

Healthnotes: http://www.healthnotes.com/

•

MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

•

Open Directory Project: http://dmoz.org/Health/Alternative/

•

HealthGate: http://www.tnp.com/

•

WebMDHealth: http://my.webmd.com/drugs_and_herbs

•

WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

•

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 4. PATENTS ON GALACTOSEMIA Overview Patents can be physical innovations (e.g. chemicals, pharmaceuticals, medical equipment) or processes (e.g. treatments or diagnostic procedures). The United States Patent and Trademark Office defines a patent as a grant of a property right to the inventor, issued by the Patent and Trademark Office.8 Patents, therefore, are intellectual property. For the United States, the term of a new patent is 20 years from the date when the patent application was filed. If the inventor wishes to receive economic benefits, it is likely that the invention will become commercially available within 20 years of the initial filing. It is important to understand, therefore, that an inventor’s patent does not indicate that a product or service is or will be commercially available. The patent implies only that the inventor has “the right to exclude others from making, using, offering for sale, or selling” the invention in the United States. While this relates to U.S. patents, similar rules govern foreign patents. In this chapter, we show you how to locate information on patents and their inventors. If you find a patent that is particularly interesting to you, contact the inventor or the assignee for further information. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical patents that use the generic term “galactosemia” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on galactosemia, we have not necessarily excluded nonmedical patents in this bibliography.

Patents on Galactosemia By performing a patent search focusing on galactosemia, you can obtain information such as the title of the invention, the names of the inventor(s), the assignee(s) or the company that owns or controls the patent, a short abstract that summarizes the patent, and a few excerpts from the description of the patent. The abstract of a patent tends to be more technical in nature, while the description is often written for the public. Full patent descriptions contain much more information than is presented here (e.g. claims, references, figures, diagrams, etc.). We will tell you how to obtain this information later in the chapter. The following is an 8Adapted

from the United States Patent and Trademark Office: http://www.uspto.gov/web/offices/pac/doc/general/whatis.htm.

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example of the type of information that you can expect to obtain from a patent search on galactosemia: •

Acetamide derivatives Inventor(s): Brittain; David R. (Rochdale, GB2), Brown; Steven P. (Bude, GB2), Cooper; Anthony L. (Bude, GB2), Longridge; Jethro L. (Macclesfield, GB2), Morris; Jeffrey J. (Sandbach, GB2), Preston; John (Knutsford, GB2), Salter; Linda (Macclesfield, GB2) Assignee(s): Imperial Chemical Industries PLC (London, GB2) Patent Number: 5,270,342 Date filed: July 31, 1991 Abstract: The invention concerns novel N-phenylacetyl and related acyl derivatives of (4-amino-2,6-dimethylphenylsulphonyl)nitromethane and pharmaceutically acceptable salts thereof which are inhibitors of the enzyme aldose reductase and are of value, for example, in the treatment of certain peripheral effects of diabetes and galactosemia. Also disclosed are pharmaceutical compositions containing one of the derivatives and processes for the manufacture and use of the derivatives. Excerpt(s): This invention concerns novel phenylacetamide derivatives which are inhibitors of the enzyme aldose reductase and which are of value, for example, in the treatment of certain peripheral effects of diabetes or galactosemia. A method of treating one or more of such peripheral effects using an acetamide derivative and pharmaceutical compositions containing such a derivative are also provided. In addition, the invention concerns novel processes for the manufacture of the novel derivatives and for the preparation of medicaments containing any of the said derivatives. The enzyme aldose reductase is responsible for the catalytic conversion of aldoses, such as glucose and galactose, to the corresponding alditols, such as sorbitol and galactitol respectively, in warm blooded animals such as man. Alditols penetrate cell membranes poorly and, once formed, tend to be removed only by further metabolism. Consequently, alditols tend to accumulate within cells where they are formed, causing a rise in internal osmotic pressure which may in turn be sufficient to destroy or impair the function of the cells themselves. In addition, raised alditol levels may result in abnormal levels of their metabolites which may themselves impair or damage cellular function. The enzyme aldose reductase has a relatively low substrate affinity and is generally only effective in the presence of relatively large concentrations of aldose. Such large concentrations are present in the clinical conditions of diabetes (excessive glucose) and galactosemia (excessive galactose). Consequently, aldose reductase inhibitors are useful in the reduction or prevention of the development of those peripheral effects of diabetes or galactosemia which may be due in part to the accumulation of sorbitol or galactitol, respectively, in tissues such as the eye, nerve and kidney. Such peripheral effects include, for example, macular oedema, cataract, retinopathy, neuropathy and impaired neural conduction. Although a number of aldose reductase inhibitors have been discovered and clinically evaluated, there is a continuing need for alternative inhibitors. In our European patent application, publication number 304,190, there is described a series of (phenylsulfonyl)nitromethane derivatives as inhibitors of the enzyme aldose reductase. We have now discovered that a specific group of novel phenylacetamide derivatives set out below are potent inhibitors of aldose reductase and this is a basis for the present invention. Web site: http://www.delphion.com/details?pn=US05270342__

Patents 65

•

Phenylsulfonyl nitromethanes as aldose reductase inhibitors Inventor(s): Brown; Steven P. (Bude, GB2), Cooper; Anthony L. (Bude, GB2), Longridge; Jethro L. (Macclesfield, GB2), Morris; Jeffrey J. (Sandbach, GB2), Preston; John (Knutsford, GB2) Assignee(s): Imperial Chemical Industries PLC (London, GB2) Patent Number: 5,153,227 Date filed: February 6, 1989 Abstract: The invention concerns novel pharmaceutical compositions for use in the treatment of certain complications of diabetes and galactosemia and which contain a nitromethane derivative (or its non-toxic salt) as active ingredient. The nitromethane derivatives are inhibitors of the enzyme aldose reductase. Many of the inhibitors are novel and are provided, together with processes for their manufacture and use, as further features of the invention. Excerpt(s): This invention concerns novel pharmaceutical compositions containing a nitromethane derivative which is an inhibitor of the enzyme aldose reductase and which compositions are of value, for example, in the treatment of certain peripheral effects of diabetes or galactosemia. A method of treating one or more of such peripheral effects using a nitromethane derivative is also provided. In addition, the invention concerns novel nitromethane derivatives and processes for the manufacture of the said novel derivatives and for the preparation of medicaments containing any of the nitromethane derivatives. The enzyme aldose reductase is responsible for the catalytic conversion of aldoses, such as glucose and galactose, to the corresponding alditols, such as sorbitol and galactitol respectively, in warm blooded animals such as man. Alditols penetrate cell membranes poorly and, once formed, tend to be removed only by further metabolism. Consequently, alditols tend to accumulate within cells where they are formed, causing a rise in internal osmotic pressure which may in turn be sufficient to destroy or impair the function of the cells themselves. In addition, raised alditol levels may result in abnormal levels of their metabolites which may themselves impair or damage cellular function. The enzyme aldose reductase has a relatively low affinity and is generally only effective in the presence of relatively large concentrations of aldose. Such large concentrations are present in the clinical conditions of diabetes (excessive glucose) and galactosemia (excessive galactose). Consequently, aldose reductase inhibitors are useful in the reduction or prevention of the development of those peripheral effects of diabetes or galactosemia which may be due in part to the accumulation of sorbitol or galactitol, respectively, in tissues such as the eye, nerve and kidney. Such peripheral effects include, for example, macular oedema, cataract, retinopathy, neuropathy and impaired neural conduction. Although a number of aldose reductase inhibitors have been discovered and clinically evaluated, there is a continuing need for alternative inhibitors. The present invention is based in part on this need and on our discovery of the unexpected inhibition of the enzyme aldose reductase by certain nitromethane derivatives. According to the invention there is provided a novel pharmaceutical composition which comprises as active ingredient a nitromethane of the formula I of the structure Q.SO.sub.2.CH.sub.2.NO.sub.2 wherein Q is an aromatic moiety of 6, 10 or 14 atoms optionally bearing 1, 2 or 3 substituents, independently selected from: hydrogen, halogeno, cyano, nitro, hydroxy, carboxy, amino, alkylamino or dialkylamino of up to 6 carbon atoms, (1-6C)alkanoylamino, (1-6C)alkanoyl, (16C)alkyl, (2 6C)alkenyl, (3 6C)alkenyloxy, fluoro(1-4C)alkyl, (1-6C)alkoxy, fluoro(14C)alkoxy, hydroxy(1-6C)-alkyl, (1-4C)alkoxy(1-4C)alkyl, carbamoyl, alkyl or dialkylcarbamoyl of up to 7 carbon atoms, sulphamoyl, alkyl or dialkylsulphamoyl of

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up to 6 carbon atoms, (1-6C)alkoxycarbonyl, (1-4C)alkylenedioxy, (16C)alkanesulphonamido, (1-6C)alkyl.S(O).sub.n -- [in which n is zero, 1 or 2], phenyl, phenoxy, benzyloxy, benzyloxycarbonyl, benzamido and benzenesulphonamido, the benzene moiety of the last six groups optionally bearing a halogeno, (1-4C)alkyl or (14C)alkoxy substituent; or Q bears 4 or 5 substituents independently selected from halogeno, cyano, (1-6C)alkyl or (1-6C)alkoxy; but excluding the compounds in which Q is 2 carboxy- phenyl; or a non-toxic salt of said nitromethane of formula I; together with a pharmaceutically acceptable diluent or carrier. Web site: http://www.delphion.com/details?pn=US05153227__ •

Quantitative analysis of hexose-monophosphates from biological samples Inventor(s): Brandt; Niels Jacob (Holte, DK), Christensen; Ernst (Frederiksberg, DK), Jensen; Ulrich Glumer (Taastrup, DK), Simonsen; Henrik (Rungsted Kyst, DK) Assignee(s): Statens Serum Institute (Copenhagen, DK) Patent Number: 6,451,611 Date filed: July 28, 2000 Abstract: The invention is for a method of quantitatively analysing the hexose monophosphate (HMP) composition of a biological sample, preferably a dried blood sample, using tandem mass spectrometry and for a method for quantitatively analysing the abundance of amino acids acylcarnitines and HMP from the same biological sample (such as a dried blood spot sample). The method is useful in screening infants for galactosemia and can be integrated with a method of screening for disorders in the metabolism of amino acids, organic acids and fatty acids. Excerpt(s): The invention relates to a method of detecting hexosemonophosphates (HMPs) in biological samples and uses therefor. In a preferred embodiment, the method of the invention can be used to screen newborns for galactosemia. Galactosemia is a lifethreatening disorder with severe symptoms in the neonatal period. It is caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT) (EC. 2.7.7.12), (OMIM 230400). In this disorder ingestion of milk causes accumulation of galactose in blood and urine and leads to a high intracellular concentration of galactose-1-phosphate (Gal-1-P). Gal-1-P is considered toxic for several tissues, especially the liver, brain, and renal tubules (12). The main symptoms appear shortly after ingestion of milk and include vomiting, failure to thrive, jaundice due to liver damage, and lethargy. The patients become comatose, and if treatment is not initiated early, death often occurs during the first weeks of life. Treatment with a galactose-free diet causes regression of symptoms and signs within a week or two. However, due to the low frequency of the disease (approximately 1:35000 in Denmark) and sub-optimal clinical awareness, diagnosis is often delayed or symptoms are misinterpreted as septicemia or isoimmunization, causing sequelae due to late intervention. While these considerations seem to advocate neonatal screening, this is still controversial as illustrated by two recent comprehensive reviews with opposing conclusions (11, 9). There are no controversies over the serious implications of untreated galactosemia:neonatal death or severe mental retardation. The major issues in the discussion are the low frequency of the disease affecting the cost benefit ratio, sub-optimal screening tests, and sequelae in the long-term outcome despite early diagnosis and treatment, such as intellectual impairment, speech disorders, cataracts, and hypergonadotrophic hypogonadism (13, 14, 5).

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Web site: http://www.delphion.com/details?pn=US06451611__

Patent Applications on Galactosemia As of December 2000, U.S. patent applications are open to public viewing.9 Applications are patent requests which have yet to be granted. (The process to achieve a patent can take several years.) The following patent applications have been filed since December 2000 relating to galactosemia: •

Detecting mutations in the GALT gene by DNA melting curve analysis Inventor(s): Banas, Richard A.; (Turtle Creek, PA), Dobrowolski, Steven F.; (Park City, UT) Correspondence: Mckay & Associates, PC.; 801 Mcneilly Road; Pittsburg; PA; 15226; US Patent Application Number: 20040005580 Date filed: October 30, 2002 Abstract: A method is disclosed for detecting galactosemia-causing mutations in the GALT gene, comprising amplifying a portion of the GALT gene from isolated DNA and allowing a pair of labeled probes to hybridize to the portion. One of the labeled probes is adapted to match to a sequence that includes the galactosemia-causing mutation, and another of the labeled probes hybridizes to an adjacent sequence, thereby forming a hybrid. Melting curves of each hybrid are then analyzed, wherein peaks of the curves are produced at an acquired fluorescence and melting temperature, T.sub.m; and a genotype is assigned based on the T.sub.m of the hybrid. Resulting melting peaks are compared to reference sample peaks derived from samples characterized to contain the mutations, wherein the reference sample curves indicate a temperature change,.DELTA.T.sub.m, between mutant and wild type peaks. Excerpt(s): The present application claims benefit of priority date so established by provisional application serial No. 60/335,630, filed Oct. 31, 2001. The present invention relates generally to methods for detecting mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. In particular, a set of methods are disclosed for genotyping specimens to determine their status (wild type or mutant) at five loci, each having a particular melting peak as they are subjected to melting curve analysis. Galactosemia is a standard component of most newborn metabolic screening programs. The classical form of galactosemia is caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Screening for galactosemia is achieved through analysis of total galactose (galactose and galactose-1-phosphate) and determining the activity of the GALT enzyme. This approach is effective, but environmental factors, specimen processing procedures, and the high frequency of the Duarte variant (N314D) necessitates further analysis to reduce false positive results. Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html

9

This has been a common practice outside the United States prior to December 2000.

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Galactosemia

Molecular diagnostics for galactosemia Inventor(s): Elsas, Louis J. II; (Atlanta, GA), Muralidharan, Kasinathan; (Atlanta, GA) Correspondence: Gwendolyn D. Spratt, ESQ.; Needle & Rosenberg, P.C.; The Candler Building, Suite 1200; 127 Peachtree Street, N.E.; Atlanta; GA; 30303-1811; US Patent Application Number: 20010024791 Date filed: March 26, 2001 Abstract: A process for detecting mutations in the gene responsible for galactosemia, galactose-1-phosphate uridyl transferase (GALT), is described. In one embodiment, the process can be used to detect over 85% of the mutations known to cause galactosemia in the United States population by using six different oligonucleotide probes, which span single-nucleotide Missense or nonsense mutations in the GALT gene. Hybridization conditions which can distinguish a single nucleotide mismatch are used to detect both the presence and zygosity of mutations in the GALT gene to aid in genetic counseling. A kit for use in detecting mutations in the GALT gene is also disclosed. Excerpt(s): This application claims priority in U.S. Provisional Application No. 60/103,286 filed Oct. 6, 1998. The field of this invention is the diagnosis of galactosemia using nucleic acid-based techniques. Galactosemia, an inherited metabolic disorder of milk sugar metabolism, is caused by certain mutations in the gene coding for the enzyme, galactose-1-phosphate uridyl transferase (GALT), which result in defective enzyme activity. This disorder is potentially fatal, so newborns throughout the U.S. and developed countries are screened for galactosemia, which when detected and treated early, saves lives and money. Evaluation of outcome in galactosemic patients began in the 1980s, and by 1990, an enigma was revealed (for example, see Kornrower, G M, J. Inher. Metab. Dis., 1982, 5:96-104; Waggoner and Buist, 1993, Intenat. Pediatr. 8:97-100). Although neonatal infants were screened and treated within days of life with a galactose-restricted diet, older children had unexpectedly poor outcomes. Dysfunctions included ovarian failure, verbal dyspraxia, growth and developmental delays, and neurological signs of cortical and extrapyramidal tract impairment. Since the GALT enzyme structure is highly conserved throughout evolution, the human GALT cDNA was cloned using probes homologous to known sequences in the bacterial enzyme. When the human cDNA and gene were sequenced (see Flach, Reichardt, and Elsas, 1990, Mol. Biol. Med. 7:365-369; and Leslie et al. 1992, Genomics 14:474-480), the first mutations in the GALT gene were associated with human galactosemia (Reichardt et al. 1991, Am. J. Hum. Genet. 49:860-867; Reichardt et al, 1992, Genomics 12: 596-600) and relationships between the mutations and the resulting phenotype were being reported (Elsas et al. 1993, Internat Pediatr. 8:101). The Q188R mutation, first reported in 1991, is the most common mutation among galactosemic patients of Caucasian ethnicity (Reichert et al. 1991, Ibid.) and causes a complete loss in GALT activity. The S135L mutation is common among African-Americans (Lai et al., J. Pediatr 1996, 128: 89-95), and results in severe reduction in GALT activity. The N314D mutation, also known as the Duarte allele (Elsas et al., 1994, Am J. Hum Genet 54: 1030-1036), causes an instability in the GALT protein that leads to a 50% reduction in activity in homozygous patients. The K285N mutation is the second most common mutation among white galactosemic patients, and is the most prevalent among patients in southern Germany and Austria (Leslie et al., 1992, Ibid.). Other common mutations identified in the white population are Y209C and L195P (Reichart et al. 1992, Ibid.). Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html

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Keeping Current In order to stay informed about patents and patent applications dealing with galactosemia, you can access the U.S. Patent Office archive via the Internet at the following Web address: http://www.uspto.gov/patft/index.html. You will see two broad options: (1) Issued Patent, and (2) Published Applications. To see a list of issued patents, perform the following steps: Under “Issued Patents,” click “Quick Search.” Then, type “galactosemia” (or synonyms) into the “Term 1” box. After clicking on the search button, scroll down to see the various patents which have been granted to date on galactosemia. You can also use this procedure to view pending patent applications concerning galactosemia. Simply go back to http://www.uspto.gov/patft/index.html. Select “Quick Search” under “Published Applications.” Then proceed with the steps listed above.

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CHAPTER 5. BOOKS ON GALACTOSEMIA Overview This chapter provides bibliographic book references relating to galactosemia. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on galactosemia include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Book Summaries: Federal Agencies The Combined Health Information Database collects various book abstracts from a variety of healthcare institutions and federal agencies. To access these summaries, go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. You will need to use the “Detailed Search” option. To find book summaries, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer. For the format option, select “Monograph/Book.” Now type “galactosemia” (or synonyms) into the “For these words:” box. You should check back periodically with this database which is updated every three months. The following is a typical result when searching for books on galactosemia: •

Liver Disorders Sourcebook Source: Detroit, MI: Omnigraphics. 2000. 591 p. Contact: Available from Omnigraphics, Inc. 615 Griswold, Detroit, MI 48226. (800) 2341340. Fax (800) 875-1340. PRICE: $78.00 plus shipping and handling. ISBN: 0780802403. Summary: This Sourcebook provides basic health care information about liver functions, guidelines for liver health, and tests that assess liver distress. The book also presents the symptoms, treatments, and preventive measures available for liver cancer; hepatitis A, B, C, D and E; genetically based liver diseases; and other liver diseases. The liver transplantation process is explained. Specific topics include strategies for protecting the liver, risk factors, common laboratory tests in liver disease, liver biopsy, cancer tumor markers, cirrhosis (scarring of the liver), infectious agents and parasites, pregnancy and the liver, jaundice in the healthy newborn, the liver's response to drugs, alcohol and the liver, acetaminophen, herbs and alternative medicine, galactosemia, Gaucher disease,

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hereditary hemochromatosis, Niemann-Pick disease, Wilson's disease, biliary atresia, cystic disease of the liver, fatty liver, gallstones, primary biliary cirrhosis, primary sclerosing cholangitis, organ donation, and the bioartificial liver. A glossary, a directory of organizations and support groups with up to date contact information (including websites and email addresses), a listing of transplant centers, and a subject index conclude the volume.

Chapters on Galactosemia In order to find chapters that specifically relate to galactosemia, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and galactosemia using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “galactosemia” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on galactosemia: •

Galactosemia: Glactose-1-Phosphate Uridyltransferase Deficiency Source: in Plumridge, D., et al., eds. Student with a Genetic Disorder: Educational Implications for Special Education Teachers and for Physical Therapists, Occupational Therapists, and Speech Pathologists. Springfield, IL: Charles C Thomas Publisher. 1993. p. 126-131. Contact: Available from Charles C Thomas Publisher. 2600 South First Street, Springfield, IL 62794-9265. (212) 789-8980. Fax (217) 789-9130. PRICE: $75.95 plus shipping and handling (cloth); $39.95 plus shipping and handling (paper). ISBN: 0398058393. Summary: Classic galactosemia is a metabolic disorder in which the body lacks the enzyme necessary to digest the sugar galactose into glucose. Dietary control is critical in this condition and even when treated, learning disabilities and health problems are common. This chapter on galactosemia is from a text for special education teachers, physical therapists, occupational therapists, and speech pathologists on the educational implications of genetic disorders. Topics covered include the physical and characteristic features of the disorder, the genetics of the disorder, the cognitive and behavior profiles, the educational implications, physical therapy, occupational therapy, hearing and speech considerations, psychosocial issues, and prognosis. 6 references.

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Directories In addition to the references and resources discussed earlier in this chapter, a number of directories relating to galactosemia have been published that consolidate information across various sources. The Combined Health Information Database lists the following, which you may wish to consult in your local medical library:10 •

1998-1999 Complete Directory for People with Rare Disorders Source: Lakeville, CT: Grey House Publishing, Inc. 1998. 726 p. Contact: Available from Grey House Publishing, Inc. Pocket Knife Square, Lakeville, CT 06039. (860) 435-0868. Fax (860) 435-0867. PRICE: $190.00. ISBN: 0939300982. Summary: This directory, from the National Organization for Rare Disorders (NORD) provides a wealth of information on diseases and organizations. The directory offers four sections: disease descriptions, disease specific organizations, umbrella organizations, and government agencies. In the first section, the directory includes descriptions of 1,102 rare diseases in alphabetical order. Each entry defines the disorder, then refers readers to the organizations that might be of interest. Diseases related to digestive diseases include achalasia, Addison's disease, Alagille syndrome, Barrett's esophagus, Budd Chiari syndrome, Caroli disease, celiac sprue, cholangitis, cholecystitis, cirrhosis, colitis, Crohn's disease, Cushing syndrome, cystic fibrosis, diverticulitis, Dubin Johnson syndrome, fructose intolerance, galactosemia, gastritis, gastroesophageal reflux, hepatitis, Hirschprung's disease, Hurler syndrome, imperforate anus, irritable bowel syndrome, jejunal atresia, Korsakoff's syndrome, lipodystrophy, maple syrup urine disease, Morquio syndrome, polyposis, porphyria, proctitis, prune belly syndrome, sarcoidosis, Stevens Johnson syndrome, Tropical sprue, tyrosinemia, valinemia, vitamin E deficiency, Whipple's disease, Wilson's disease, and Zollinger Ellison syndrome. Each of the 445 organizations listed in the second section is associated with a specific disease or group of diseases. In addition to contact information, there is a descriptive paragraph about the organization and its primary goals and program activities. Entries include materials published by the organization as well as the diseases the organizations cover, which refer readers to Section I. The third section lists 444 organizations that are more general in nature, serving a wide range of diseases (for example, the American Liver Foundation). The final section describes 74 agencies that are important federal government contacts that serve the diverse needs of individuals with rare disorders. A name and key word index concludes the volume.

10

You will need to limit your search to “Directory” and “galactosemia” using the "Detailed Search" option. Go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find directories, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Select your preferred language and the format option “Directory.” Type “galactosemia” (or synonyms) into the “For these words:” box. You should check back periodically with this database as it is updated every three months.

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APPENDICES

77

APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute11: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

•

National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

•

National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

11

These publications are typically written by one or more of the various NIH Institutes.

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•

National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

•

National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

•

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

•

National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

•

National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

•

National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

•

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

•

National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

•

National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

•

National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

•

National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

•

National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

•

National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

•

Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

•

National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

•

National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

•

Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.12 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:13 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

•

Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

•

Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

12

Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 13 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway14 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.15 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “galactosemia” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 2045 23 7 3 25 2103

HSTAT16 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.17 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.18 Simply search by “galactosemia” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

14

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

15

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 16 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 17 18

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists19 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.20 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.21 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

19 Adapted 20

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 21 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on galactosemia can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to galactosemia. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to galactosemia. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “galactosemia”:

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Adrenal Gland Disorders http://www.nlm.nih.gov/medlineplus/adrenalglanddisorders.html Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Liver Diseases http://www.nlm.nih.gov/medlineplus/liverdiseases.html Metabolic Disorders http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html Phenylketonuria http://www.nlm.nih.gov/medlineplus/phenylketonuria.html You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The Combined Health Information Database (CHID) CHID Online is a reference tool that maintains a database directory of thousands of journal articles and patient education guidelines on galactosemia. CHID offers summaries that describe the guidelines available, including contact information and pricing. CHID’s general Web site is http://chid.nih.gov/. To search this database, go to http://chid.nih.gov/detail/detail.html. In particular, you can use the advanced search options to look up pamphlets, reports, brochures, and information kits. The following was recently posted in this archive: •

Galactosemia Source: Cedar Grove, NJ: American Liver Foundation. 1997. [1 p.]. Contact: Available from American Liver Foundation. Information and Distribution Center, 1425 Pompton Avenue, Suite 3, Cedar Grove, NJ 07009-1000. (800) GO-LIVER, ext. 234 or (888) 4HEP-ABC. Fax (973) 256-3214. E-mail: [email protected]. Website: www.liverfoundation.org. PRICE: $0.50 for single copy; bulk orders available; plus shipping and handling. Summary: Galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood, resulting from a deficiency of the liver enzyme required for its metabolism (breakdown). This brief fact sheet reviews galactosemia. The fact sheet covers the genetics of galactosemia, symptoms, diagnostic tests that may be used to confirm the condition, and treatment options (notably elimination of galactose from the diet). With early therapy, any liver damage which occurred in the first few days of life will nearly completely heal. The author concludes that galactosemia should be considered in any jaundiced infant because of the beneficial effects of early dietary restriction. The fact sheet concludes with

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the contact information for the American Liver Foundation, a nonprofit, national voluntary health organization (www.liverfoundation.org). The NIH Search Utility The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to galactosemia. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. NORD (The National Organization of Rare Disorders, Inc.) NORD provides an invaluable service to the public by publishing short yet comprehensive guidelines on over 1,000 diseases. NORD primarily focuses on rare diseases that might not be covered by the previously listed sources. NORD’s Web address is http://www.rarediseases.org/. A complete guide on galactosemia can be purchased from NORD for a nominal fee. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMDHealth: http://my.webmd.com/health_topics

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to galactosemia. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with galactosemia.

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The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about galactosemia. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “galactosemia” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “galactosemia”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “galactosemia” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “galactosemia” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.22

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

22

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)23: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

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Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

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California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

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California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

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California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

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California: Gateway Health Library (Sutter Gould Medical Foundation)

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California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

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California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

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California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

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California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

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California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

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California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

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California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

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California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

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Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

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Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

23

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

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•

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

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Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

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Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

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Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

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Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

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Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

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Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

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Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

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Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

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Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

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Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

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Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

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Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

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Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

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Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

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Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

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•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

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Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

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Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

•

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

•

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

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Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

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Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

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Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

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Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

•

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

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Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

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Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

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Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

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Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

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Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

•

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

•

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

•

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

•

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

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•

Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

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New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

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New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

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New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

•

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

•

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

•

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

•

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

•

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

•

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

•

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

•

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

•

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

•

Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

•

Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

•

Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

•

Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

•

Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

•

Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

•

Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

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•

South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

•

Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

•

Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

•

Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

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ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

•

MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

•

Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

•

Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

•

On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

•

Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

•

Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a). The NIH suggests the following Web sites in the ADAM Medical Encyclopedia when searching for information on galactosemia: •

Basic Guidelines for Galactosemia Galactosemia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm

•

Signs & Symptoms for Galactosemia Convulsions Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003200.htm Hepatomegaly Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003275.htm Irritability Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003214.htm Jaundice Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003243.htm

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Lethargy Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003088.htm Poor feeding Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003022.htm Pupil, white spots Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003315.htm Vomiting Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003117.htm Weight gain Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003084.htm •

Diagnostics and Tests for Galactosemia Aminoaciduria Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003366.htm Galactose-1-phosphate uridyl transferase Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003636.htm

•

Nutrition for Galactosemia Protein Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002467.htm

•

Background Topics for Galactosemia Enzyme Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002353.htm Genetic counseling Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002053.htm Metabolize Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002259.htm Prenatal diagnosis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002053.htm

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

Online Glossaries 95

•

MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

•

Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

•

Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

97

GALACTOSEMIA DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. 1-phosphate: A drug that halts cell suicide in human white blood cells. [NIH] Abdomen: That portion of the body that lies between the thorax and the pelvis. [NIH] Abdominal: Having to do with the abdomen, which is the part of the body between the chest and the hips that contains the pancreas, stomach, intestines, liver, gallbladder, and other organs. [NIH] Abdominal Pain: Sensation of discomfort, distress, or agony in the abdominal region. [NIH] Aberrant: Wandering or deviating from the usual or normal course. [EU] Acceptor: A substance which, while normally not oxidized by oxygen or reduced by hydrogen, can be oxidized or reduced in presence of a substance which is itself undergoing oxidation or reduction. [NIH] Acetaminophen: Analgesic antipyretic derivative of acetanilide. It has weak antiinflammatory properties and is used as a common analgesic, but may cause liver, blood cell, and kidney damage. [NIH] Acetylgalactosamine: The N-acetyl derivative of galactosamine. [NIH] Acremonium: A mitosporic fungal genus with many reported ascomycetous teleomorphs. Cephalosporin antibiotics are derived from this genus. [NIH] Acyl: Chemical signal used by bacteria to communicate. [NIH] Adaptability: Ability to develop some form of tolerance to conditions extremely different from those under which a living organism evolved. [NIH] Adolescence: The period of life beginning with the appearance of secondary sex characteristics and terminating with the cessation of somatic growth. The years usually referred to as adolescence lie between 13 and 18 years of age. [NIH] Adrenergic: Activated by, characteristic of, or secreting epinephrine or substances with similar activity; the term is applied to those nerve fibres that liberate norepinephrine at a synapse when a nerve impulse passes, i.e., the sympathetic fibres. [EU] Adverse Effect: An unwanted side effect of treatment. [NIH] Affinity: 1. Inherent likeness or relationship. 2. A special attraction for a specific element, organ, or structure. 3. Chemical affinity; the force that binds atoms in molecules; the tendency of substances to combine by chemical reaction. 4. The strength of noncovalent chemical binding between two substances as measured by the dissociation constant of the complex. 5. In immunology, a thermodynamic expression of the strength of interaction between a single antigen-binding site and a single antigenic determinant (and thus of the stereochemical compatibility between them), most accurately applied to interactions among simple, uniform antigenic determinants such as haptens. Expressed as the association constant (K litres mole -1), which, owing to the heterogeneity of affinities in a population of antibody molecules of a given specificity, actually represents an average value (mean intrinsic association constant). 6. The reciprocal of the dissociation constant. [EU] Aldose Reductase Inhibitor: A class of drugs being studied as a way to prevent eye and nerve damage in people with diabetes. Aldose reductase is an enzyme that is normally present in the eye and in many other parts of the body. It helps change glucose (sugar) into a

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sugar alcohol called sorbitol. Too much sorbitol trapped in eye and nerve cells can damage these cells, leading to retinopathy and neuropathy. Drugs that prevent or slow (inhibit) the action of aldose reductase are being studied as a way to prevent or delay these complications of diabetes. [NIH] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alkaline: Having the reactions of an alkali. [EU] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Alpha 1-Antitrypsin: Plasma glycoprotein member of the serpin superfamily which inhibits trypsin, neutrophil elastase, and other proteolytic enzymes. Commonly referred to as alpha 1-proteinase inhibitor (A1PI), it exists in over 30 different biochemical variant forms known collectively as the PI (protease inhibitor) system. Hereditary A1PI deficiency is associated with pulmonary emphysema. [NIH] Alpha 1-Antitrypsin Deficiency: A disease caused by single gene defects. [NIH] Alpha-1: A protein with the property of inactivating proteolytic enzymes such as leucocyte collagenase and elastase. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amino acid: Any organic compound containing an amino (-NH2 and a carboxyl (- COOH) group. The 20 a-amino acids listed in the accompanying table are the amino acids from which proteins are synthesized by formation of peptide bonds during ribosomal translation of messenger RNA; all except glycine, which is not optically active, have the L configuration. Other amino acids occurring in proteins, such as hydroxyproline in collagen, are formed by posttranslational enzymatic modification of amino acids residues in polypeptide chains. There are also several important amino acids, such as the neurotransmitter y-aminobutyric acid, that have no relation to proteins. Abbreviated AA. [EU] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Ammonia: A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. [NIH] Amnion: The extraembryonic membrane which contains the embryo and amniotic fluid. [NIH]

Amniotic Fluid: Amniotic cavity fluid which is produced by the amnion and fetal lungs and kidneys. [NIH] Ampulla: A sac-like enlargement of a canal or duct. [NIH] Anal: Having to do with the anus, which is the posterior opening of the large bowel. [NIH] Analgesic: An agent that alleviates pain without causing loss of consciousness. [EU] Analytes: A component of a test sample the presence of which has to be demonstrated. The term "analyte" includes where appropriate formed from the analyte during the analyses. [NIH]

Anaphylatoxins: The family of peptides C3a, C4a, C5a, and C5a des-arginine produced in

Dictionary 99

the serum during complement activation. They produce smooth muscle contraction, mast cell histamine release, affect platelet aggregation, and act as mediators of the local inflammatory process. The order of anaphylatoxin activity from strongest to weakest is C5a, C3a, C4a, and C5a des-arginine. The latter is the so-called "classical" anaphylatoxin but shows no spasmogenic activity though it contains some chemotactic ability. [NIH] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Animal model: An animal with a disease either the same as or like a disease in humans. Animal models are used to study the development and progression of diseases and to test new treatments before they are given to humans. Animals with transplanted human cancers or other tissues are called xenograft models. [NIH] Anions: Negatively charged atoms, radicals or groups of atoms which travel to the anode or positive pole during electrolysis. [NIH] Antagonism: Interference with, or inhibition of, the growth of a living organism by another living organism, due either to creation of unfavorable conditions (e. g. exhaustion of food supplies) or to production of a specific antibiotic substance (e. g. penicillin). [NIH] Antibacterial: A substance that destroys bacteria or suppresses their growth or reproduction. [EU] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Antigen-Antibody Complex: The complex formed by the binding of antigen and antibody molecules. The deposition of large antigen-antibody complexes leading to tissue damage causes immune complex diseases. [NIH] Anti-inflammatory: Having to do with reducing inflammation. [NIH] Antioxidant: A substance that prevents damage caused by free radicals. Free radicals are highly reactive chemicals that often contain oxygen. They are produced when molecules are split to give products that have unpaired electrons. This process is called oxidation. [NIH] Antipsychotic: Effective in the treatment of psychosis. Antipsychotic drugs (called also neuroleptic drugs and major tranquilizers) are a chemically diverse (including phenothiazines, thioxanthenes, butyrophenones, dibenzoxazepines, dibenzodiazepines, and diphenylbutylpiperidines) but pharmacologically similar class of drugs used to treat schizophrenic, paranoid, schizoaffective, and other psychotic disorders; acute delirium and dementia, and manic episodes (during induction of lithium therapy); to control the movement disorders associated with Huntington's chorea, Gilles de la Tourette's syndrome,

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and ballismus; and to treat intractable hiccups and severe nausea and vomiting. Antipsychotic agents bind to dopamine, histamine, muscarinic cholinergic, a-adrenergic, and serotonin receptors. Blockade of dopaminergic transmission in various areas is thought to be responsible for their major effects : antipsychotic action by blockade in the mesolimbic and mesocortical areas; extrapyramidal side effects (dystonia, akathisia, parkinsonism, and tardive dyskinesia) by blockade in the basal ganglia; and antiemetic effects by blockade in the chemoreceptor trigger zone of the medulla. Sedation and autonomic side effects (orthostatic hypotension, blurred vision, dry mouth, nasal congestion and constipation) are caused by blockade of histamine, cholinergic, and adrenergic receptors. [EU] Antipyretic: An agent that relieves or reduces fever. Called also antifebrile, antithermic and febrifuge. [EU] Anus: The opening of the rectum to the outside of the body. [NIH] Apolipoproteins: The protein components of lipoproteins which remain after the lipids to which the proteins are bound have been removed. They play an important role in lipid transport and metabolism. [NIH] Aqueous: Having to do with water. [NIH] Arteries: The vessels carrying blood away from the heart. [NIH] Artery: Vessel-carrying blood from the heart to various parts of the body. [NIH] Ascites: Accumulation or retention of free fluid within the peritoneal cavity. [NIH] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Atresia: Lack of a normal opening from the esophagus, intestines, or anus. [NIH] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Attenuated: Strain with weakened or reduced virulence. [NIH] Atypical: Irregular; not conformable to the type; in microbiology, applied specifically to strains of unusual type. [EU] Auditory: Pertaining to the sense of hearing. [EU] Autopsy: Postmortem examination of the body. [NIH] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basophils: Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes. [NIH] Benign: Not cancerous; does not invade nearby tissue or spread to other parts of the body. [NIH]

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Benzene: Toxic, volatile, flammable liquid hydrocarbon biproduct of coal distillation. It is used as an industrial solvent in paints, varnishes, lacquer thinners, gasoline, etc. Benzene causes central nervous system damage acutely and bone marrow damage chronically and is carcinogenic. It was formerly used as parasiticide. [NIH] Bilateral: Affecting both the right and left side of body. [NIH] Bile: An emulsifying agent produced in the liver and secreted into the duodenum. Its composition includes bile acids and salts, cholesterol, and electrolytes. It aids digestion of fats in the duodenum. [NIH] Bile Acids: Acids made by the liver that work with bile to break down fats. [NIH] Bile duct: A tube through which bile passes in and out of the liver. [NIH] Bile Pigments: Pigments that give a characteristic color to bile including: bilirubin, biliverdine, and bilicyanin. [NIH] Biliary: Having to do with the liver, bile ducts, and/or gallbladder. [NIH] Biliary Atresia: Atresia of the biliary tract, most commonly of the extrahepatic bile ducts. [NIH]

Biliary Tract: The gallbladder and its ducts. [NIH] Bilirubin: A bile pigment that is a degradation product of heme. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body. [NIH] Biosynthesis: The building up of a chemical compound in the physiologic processes of a living organism. [EU] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Bloating: Fullness or swelling in the abdomen that often occurs after meals. [NIH] Blood Coagulation: The process of the interaction of blood coagulation factors that results in an insoluble fibrin clot. [NIH] Blood Platelets: Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation. [NIH] Blood transfusion: The administration of blood or blood products into a blood vessel. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Blot: To transfer DNA, RNA, or proteins to an immobilizing matrix such as nitrocellulose. [NIH]

Body Fluids: Liquid components of living organisms. [NIH] Bolus: A single dose of drug usually injected into a blood vessel over a short period of time. Also called bolus infusion. [NIH] Bolus infusion: A single dose of drug usually injected into a blood vessel over a short period of time. Also called bolus. [NIH]

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Bone Density: The amount of mineral per square centimeter of bone. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by photon absorptiometry or x-ray computed tomography. [NIH] Bone Marrow: The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells. [NIH] Brain Diseases: Pathologic conditions affecting the brain, which is composed of the intracranial components of the central nervous system. This includes (but is not limited to) the cerebral cortex; intracranial white matter; basal ganglia; thalamus; hypothalamus; brain stem; and cerebellum. [NIH] Brain Neoplasms: Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. [NIH] Broad-spectrum: Effective against a wide range of microorganisms; said of an antibiotic. [EU] Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [NIH] Capillary: Any one of the minute vessels that connect the arterioles and venules, forming a network in nearly all parts of the body. Their walls act as semipermeable membranes for the interchange of various substances, including fluids, between the blood and tissue fluid; called also vas capillare. [EU] Carbohydrate: An aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water, (CH2O)n. The most important carbohydrates are the starches, sugars, celluloses, and gums. They are classified into mono-, di-, tri-, polyand heterosaccharides. [EU] Carboxy: Cannabinoid. [NIH] Carcinogenic: Producing carcinoma. [EU] Cardiovascular: Having to do with the heart and blood vessels. [NIH] Carotene: The general name for a group of pigments found in green, yellow, and leafy vegetables, and yellow fruits. The pigments are fat-soluble, unsaturated aliphatic hydrocarbons functioning as provitamins and are converted to vitamin A through enzymatic processes in the intestinal wall. [NIH] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Cataract: An opacity, partial or complete, of one or both eyes, on or in the lens or capsule, especially an opacity impairing vision or causing blindness. The many kinds of cataract are

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classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). [EU] Cations: Postively charged atoms, radicals or groups of atoms which travel to the cathode or negative pole during electrolysis. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell membrane: Cell membrane = plasma membrane. The structure enveloping a cell, enclosing the cytoplasm, and forming a selective permeability barrier; it consists of lipids, proteins, and some carbohydrates, the lipids thought to form a bilayer in which integral proteins are embedded to varying degrees. [EU] Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Central Nervous System Infections: Pathogenic infections of the brain, spinal cord, and meninges. DNA virus infections; RNA virus infections; bacterial infections; mycoplasma infections; Spirochaetales infections; fungal infections; protozoan infections; helminthiasis; and prion diseases may involve the central nervous system as a primary or secondary process. [NIH] Cephalosporins: A group of broad-spectrum antibiotics first isolated from the Mediterranean fungus Acremonium (Cephalosporium acremonium). They contain the betalactam moiety thia-azabicyclo-octenecarboxylic acid also called 7-aminocephalosporanic acid. [NIH] Cerebellum: Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Cortex: The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri. It reaches its highest development in man and is responsible for intellectual faculties and higher mental functions. [NIH] Cerebrospinal: Pertaining to the brain and spinal cord. [EU] Cerebrospinal fluid: CSF. The fluid flowing around the brain and spinal cord. Cerebrospinal fluid is produced in the ventricles in the brain. [NIH] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Cervical: Relating to the neck, or to the neck of any organ or structure. Cervical lymph nodes are located in the neck; cervical cancer refers to cancer of the uterine cervix, which is the lower, narrow end (the "neck") of the uterus. [NIH] Character: In current usage, approximately equivalent to personality. The sum of the relatively fixed personality traits and habitual modes of response of an individual. [NIH] Chemotactic Factors: Chemical substances that attract or repel cells or organisms. The concept denotes especially those factors released as a result of tissue injury, invasion, or immunologic activity, that attract leukocytes, macrophages, or other cells to the site of infection or insult. [NIH] Chin: The anatomical frontal portion of the mandible, also known as the mentum, that

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contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve. [NIH] Cholangitis: Inflammation of a bile duct. [NIH] Cholecystitis: Inflammation of the gallbladder. [NIH] Cholestasis: Impairment of biliary flow at any level from the hepatocyte to Vater's ampulla. [NIH]

Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. [NIH] Cholesterol Esters: Fatty acid esters of cholesterol which constitute about two-thirds of the cholesterol in the plasma. The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. [NIH] Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chylomicrons: A class of lipoproteins that carry dietary cholesterol and triglycerides from the small intestines to the tissues. [NIH] Circulatory system: The system that contains the heart and the blood vessels and moves blood throughout the body. This system helps tissues get enough oxygen and nutrients, and it helps them get rid of waste products. The lymph system, which connects with the blood system, is often considered part of the circulatory system. [NIH] Cirrhosis: A type of chronic, progressive liver disease. [NIH] CIS: Cancer Information Service. The CIS is the National Cancer Institute's link to the public, interpreting and explaining research findings in a clear and understandable manner, and providing personalized responses to specific questions about cancer. Access the CIS by calling 1-800-4-CANCER, or by using the Web site at http://cis.nci.nih.gov. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Clozapine: A tricylic dibenzodiazepine, classified as an atypical antipsychotic agent. It binds several types of central nervous system receptors, and displays a unique pharmacological profile. Clozapine is a serotonin antagonist, with strong binding to 5-HT 2A/2C receptor subtype. It also displays strong affinity to several dopaminergic receptors, but shows only weak antagonism at the dopamine D2 receptor, a receptor commonly thought to modulate neuroleptic activity. Agranulocytosis is a major adverse effect associated with administration of this agent. [NIH] Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (codon, terminator). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, transfer) complementary to all codons. These codons are referred to as unassigned codons (codons, nonsense). [NIH]

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Coenzymes: Substances that are necessary for the action or enhancement of action of an enzyme. Many vitamins are coenzymes. [NIH] Colitis: Inflammation of the colon. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Colloidal: Of the nature of a colloid. [EU] Colon: The long, coiled, tubelike organ that removes water from digested food. The remaining material, solid waste called stool, moves through the colon to the rectum and leaves the body through the anus. [NIH] Comatose: Pertaining to or affected with coma. [EU] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Compliance: Distensibility measure of a chamber such as the lungs (lung compliance) or bladder. Compliance is expressed as a change in volume per unit change in pressure. [NIH]

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Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Concentric: Having a common center of curvature or symmetry. [NIH] Conduction: The transfer of sound waves, heat, nervous impulses, or electricity. [EU] Cones: One type of specialized light-sensitive cells (photoreceptors) in the retina that provide sharp central vision and color vision. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connexins: A group of homologous proteins which form the intermembrane channels of gap junctions. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions. [NIH] Constipation: Infrequent or difficult evacuation of feces. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Coordination: Muscular or motor regulation or the harmonious cooperation of muscles or groups of muscles, in a complex action or series of actions. [NIH] Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Craniocerebral Trauma: Traumatic injuries involving the cranium and intracranial structures (i.e., brain; cranial nerves; meninges; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage. [NIH] Curative: Tending to overcome disease and promote recovery. [EU] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU] Deamination: The removal of an amino group (NH2) from a chemical compound. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH]

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Delivery of Health Care: The concept concerned with all aspects of providing and distributing health services to a patient population. [NIH] Density: The logarithm to the base 10 of the opacity of an exposed and processed film. [NIH] Dental Care: The total of dental diagnostic, preventive, and restorative services provided to meet the needs of a patient (from Illustrated Dictionary of Dentistry, 1982). [NIH] Dental Caries: Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disase are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification. [NIH]

Deuterium: Deuterium. The stable isotope of hydrogen. It has one neutron and one proton in the nucleus. [NIH] Developed Countries: Countries that have reached a level of economic achievement through an increase of production, per capita income and consumption, and utilization of natural and human resources. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diarrhea: Passage of excessively liquid or excessively frequent stools. [NIH] Diffusion: The tendency of a gas or solute to pass from a point of higher pressure or concentration to a point of lower pressure or concentration and to distribute itself throughout the available space; a major mechanism of biological transport. [NIH] Digestion: The process of breakdown of food for metabolism and use by the body. [NIH] Dihydrotestosterone: Anabolic agent. [NIH] Dilation: A process by which the pupil is temporarily enlarged with special eye drops (mydriatic); allows the eye care specialist to better view the inside of the eye. [NIH] Dilution: A diluted or attenuated medicine; in homeopathy, the diffusion of a given quantity of a medicinal agent in ten or one hundred times the same quantity of water. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Disposition: A tendency either physical or mental toward certain diseases. [EU] Dissociation: 1. The act of separating or state of being separated. 2. The separation of a molecule into two or more fragments (atoms, molecules, ions, or free radicals) produced by the absorption of light or thermal energy or by solvation. 3. In psychology, a defense mechanism in which a group of mental processes are segregated from the rest of a person's mental activity in order to avoid emotional distress, as in the dissociative disorders (q.v.), or in which an idea or object is segregated from its emotional significance; in the first sense it is roughly equivalent to splitting, in the second, to isolation. 4. A defect of mental integration in which one or more groups of mental processes become separated off from normal consciousness and, thus separated, function as a unitary whole. [EU] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Diuretic: A drug that increases the production of urine. [NIH] Diverticula: Plural form of diverticulum. [NIH] Diverticulitis: Inflammation of a diverticulum or diverticula. [NIH]

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Diverticulum: A pathological condition manifested as a pouch or sac opening from a tubular or sacular organ. [NIH] Dopamine: An endogenous catecholamine and prominent neurotransmitter in several systems of the brain. In the synthesis of catecholamines from tyrosine, it is the immediate precursor to norepinephrine and epinephrine. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of dopaminergic receptor subtypes mediate its action. Dopamine is used pharmacologically for its direct (beta adrenergic agonist) and indirect (adrenergic releasing) sympathomimetic effects including its actions as an inotropic agent and as a renal vasodilator. [NIH] Doxazosin: A selective alpha-1-adrenergic blocker that lowers serum cholesterol. It is also effective in the treatment of hypertension. [NIH] Edema: Excessive amount of watery fluid accumulated in the intercellular spaces, most commonly present in subcutaneous tissue. [NIH] Effector: It is often an enzyme that converts an inactive precursor molecule into an active second messenger. [NIH] Efficacy: The extent to which a specific intervention, procedure, regimen, or service produces a beneficial result under ideal conditions. Ideally, the determination of efficacy is based on the results of a randomized control trial. [NIH] Elective: Subject to the choice or decision of the patient or physician; applied to procedures that are advantageous to the patient but not urgent. [EU] Electrons: Stable elementary particles having the smallest known negative charge, present in all elements; also called negatrons. Positively charged electrons are called positrons. The numbers, energies and arrangement of electrons around atomic nuclei determine the chemical identities of elements. Beams of electrons are called cathode rays or beta rays, the latter being a high-energy biproduct of nuclear decay. [NIH] Electrophoresis: An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current. [NIH]

Elementary Particles: Individual components of atoms, usually subatomic; subnuclear particles are usually detected only when the atomic nucleus decays and then only transiently, as most of them are unstable, often yielding pure energy without substance, i.e., radiation. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Emphysema: A pathological accumulation of air in tissues or organs. [NIH] Enamel: A very hard whitish substance which covers the dentine of the anatomical crown of a tooth. [NIH] Encephalopathy: A disorder of the brain that can be caused by disease, injury, drugs, or chemicals. [NIH] Endogenous: Produced inside an organism or cell. The opposite is external (exogenous) production. [NIH] Endotoxic: Of, relating to, or acting as an endotoxin (= a heat-stable toxin, associated with the outer membranes of certain gram-negative bacteria. Endotoxins are not secreted and are released only when the cells are disrupted). [EU] Endotoxins: Toxins closely associated with the living cytoplasm or cell wall of certain microorganisms, which do not readily diffuse into the culture medium, but are released upon lysis of the cells. [NIH]

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Enhancer: Transcriptional element in the virus genome. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Eosinophils: Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin. [NIH] Epinephrine: The active sympathomimetic hormone from the adrenal medulla in most species. It stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels. It is used in asthma and cardiac failure and to delay absorption of local anesthetics. [NIH] Epithelial: Refers to the cells that line the internal and external surfaces of the body. [NIH] Epithelial Cells: Cells that line the inner and outer surfaces of the body. [NIH] Epithelium: One or more layers of epithelial cells, supported by the basal lamina, which covers the inner or outer surfaces of the body. [NIH] Epitopes: Sites on an antigen that interact with specific antibodies. [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Evoked Potentials: The electric response evoked in the central nervous system by stimulation of sensory receptors or some point on the sensory pathway leading from the receptor to the cortex. The evoked stimulus can be auditory, somatosensory, or visual, although other modalities have been reported. Event-related potentials is sometimes used synonymously with evoked potentials but is often associated with the execution of a motor, cognitive, or psychophysiological task, as well as with the response to a stimulus. [NIH] Exogenous: Developed or originating outside the organism, as exogenous disease. [EU] Extracellular: Outside a cell or cells. [EU] Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. [NIH] Extrapyramidal: Outside of the pyramidal tracts. [EU] Failure to Thrive: A condition in which an infant or child's weight gain and growth are far below usual levels for age. [NIH] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH] Fatty Liver: The buildup of fat in liver cells. The most common cause is alcoholism. Other causes include obesity, diabetes, and pregnancy. Also called steatosis. [NIH] Febrile: Pertaining to or characterized by fever. [EU] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH]

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Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Filtration: The passage of a liquid through a filter, accomplished by gravity, pressure, or vacuum (suction). [EU] Flatus: Gas passed through the rectum. [NIH] Fluorescence: The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis. [NIH] Free Radicals: Highly reactive molecules with an unsatisfied electron valence pair. Free radicals are produced in both normal and pathological processes. They are proven or suspected agents of tissue damage in a wide variety of circumstances including radiation, damage from environment chemicals, and aging. Natural and pharmacological prevention of free radical damage is being actively investigated. [NIH] Fructose Intolerance: An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. [NIH] Fungus: A general term used to denote a group of eukaryotic protists, including mushrooms, yeasts, rusts, moulds, smuts, etc., which are characterized by the absence of chlorophyll and by the presence of a rigid cell wall composed of chitin, mannans, and sometimes cellulose. They are usually of simple morphological form or show some reversible cellular specialization, such as the formation of pseudoparenchymatous tissue in the fruiting body of a mushroom. The dimorphic fungi grow, according to environmental conditions, as moulds or yeasts. [EU] Galactitol: A naturally occurring product of plants obtained following reduction of galactose. It appears as a white crystalline powder with a slight sweet taste. It may form in excess in the lens of the eye in galactosemia, a deficiency of galactokinase. [NIH] Galactokinase: An enzyme that catalyzes reversibly the formation of galactose 1-phosphate and ADP from ATP and D-galactose. Galactosamine can also act as the acceptor. A deficiency of this enzyme results in galactosemia. EC 2.7.1.6. [NIH] Galactosemia: Buildup of galactose in the blood. Caused by lack of one of the enzymes needed to break down galactose into glucose. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Gap Junctions: Connections between cells which allow passage of small molecules and electric current. Gap junctions were first described anatomically as regions of close apposition between cells with a narrow (1-2 nm) gap between cell membranes. The variety in the properties of gap junctions is reflected in the number of connexins, the family of proteins which form the junctions. [NIH] Gas: Air that comes from normal breakdown of food. The gases are passed out of the body through the rectum (flatus) or the mouth (burp). [NIH]

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Gasoline: Volative flammable fuel (liquid hydrocarbons) derived from crude petroleum by processes such as distillation reforming, polymerization, etc. [NIH] Gastric: Having to do with the stomach. [NIH] Gastrin: A hormone released after eating. Gastrin causes the stomach to produce more acid. [NIH]

Gastritis: Inflammation of the stomach. [EU] Gastroesophageal Reflux: Reflux of gastric juice and/or duodenal contents (bile acids, pancreatic juice) into the distal esophagus, commonly due to incompetence of the lower esophageal sphincter. Gastric regurgitation is an extension of this process with entry of fluid into the pharynx or mouth. [NIH] Gastrointestinal: Refers to the stomach and intestines. [NIH] Gastrointestinal tract: The stomach and intestines. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. [NIH] Genetic Code: The specifications for how information, stored in nucleic acid sequence (base sequence), is translated into protein sequence (amino acid sequence). The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons (codon). [NIH] Genetic Counseling: Advising families of the risks involved pertaining to birth defects, in order that they may make an informed decision on current or future pregnancies. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ Cells: The reproductive cells in multicellular organisms. [NIH] Giant Cells: Multinucleated masses produced by the fusion of many cells; often associated with viral infections. In AIDS, they are induced when the envelope glycoprotein of the HIV virus binds to the CD4 antigen of uninfected neighboring T4 cells. The resulting syncytium leads to cell death and thus may account for the cytopathic effect of the virus. [NIH] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glomerular: Pertaining to or of the nature of a glomerulus, especially a renal glomerulus. [EU]

Glomerular Filtration Rate: The volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. It is considered to be equivalent to inulin clearance. [NIH] Glomerular Mesangium: The thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes, and the mesangial extracellular matrix. [NIH] Glomeruli: Plural of glomerulus. [NIH]

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Glomerulonephritis: Glomerular disease characterized by an inflammatory reaction, with leukocyte infiltration and cellular proliferation of the glomeruli, or that appears to be the result of immune glomerular injury. [NIH] Glomerulus: A tiny set of looping blood vessels in the nephron where blood is filtered in the kidney. [NIH] Gluconeogenesis: The process by which glucose is formed from a non-carbohydrate source. [NIH]

Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glycine: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [NIH] Glycogen: A sugar stored in the liver and muscles. It releases glucose into the blood when cells need it for energy. Glycogen is the chief source of stored fuel in the body. [NIH] Glycoprotein: A protein that has sugar molecules attached to it. [NIH] Glycosidic: Formed by elimination of water between the anomeric hydroxyl of one sugar and a hydroxyl of another sugar molecule. [NIH] Glycosylation: The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction. [NIH] Gonads: The gamete-producing glands, ovary or testis. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Habitual: Of the nature of a habit; according to habit; established by or repeated by force of habit, customary. [EU] Haptens: Small antigenic determinants capable of eliciting an immune response only when coupled to a carrier. Haptens bind to antibodies but by themselves cannot elicit an antibody response. [NIH] Headache: Pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions including subarachnoid hemorrhage; craniocerebral trauma; central nervous system infections; intracranial hypertension; and other disorders. In general, recurrent headaches that are not associated with a primary disease process are referred to as headache disorders (e.g., migraine). [NIH] Health Care Costs: The actual costs of providing services related to the delivery of health care, including the costs of procedures, therapies, and medications. It is differentiated from health expenditures, which refers to the amount of money paid for the services, and from fees, which refers to the amount charged, regardless of cost. [NIH] Health Expenditures: The amounts spent by individuals, groups, nations, or private or public organizations for total health care and/or its various components. These amounts may or may not be equivalent to the actual costs (health care costs) and may or may not be shared among the patient, insurers, and/or employers. [NIH] Heart failure: Loss of pumping ability by the heart, often accompanied by fatigue, breathlessness, and excess fluid accumulation in body tissues. [NIH] Heme: The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins. [NIH] Hemochromatosis: A disease that occurs when the body absorbs too much iron. The body

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stores the excess iron in the liver, pancreas, and other organs. May cause cirrhosis of the liver. Also called iron overload disease. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemorrhage: Bleeding or escape of blood from a vessel. [NIH] Hemostasis: The process which spontaneously arrests the flow of blood from vessels carrying blood under pressure. It is accomplished by contraction of the vessels, adhesion and aggregation of formed blood elements, and the process of blood or plasma coagulation. [NIH]

Hepatic: Refers to the liver. [NIH] Hepatitis: Inflammation of the liver and liver disease involving degenerative or necrotic alterations of hepatocytes. [NIH] Hepatocyte: A liver cell. [NIH] Hepatology: The field of medicine concerned with the functions and disorders of the liver. [NIH]

Hepatomegaly: Enlargement of the liver. [NIH] Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Heterozygote: An individual having different alleles at one or more loci in homologous chromosome segments. [NIH] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Homozygotes: An individual having a homozygous gene pair. [NIH] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hybrid: Cross fertilization between two varieties or, more usually, two species of vines, see also crossing. [NIH] Hydrocephalus: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, intracranial hypertension; headache; lethargy; urinary incontinence; and ataxia (and in infants macrocephaly). This condition may be caused by obstruction of cerebrospinal fluid pathways due to neurologic abnormalities, intracranial hemorrhages; central nervous system infections; brain neoplasms; craniocerebral trauma; and other conditions. Impaired resorption of cerebrospinal fluid from the arachnoid villi results in a communicating form of

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hydrocephalus. Hydrocephalus ex-vacuo refers to ventricular dilation that occurs as a result of brain substance loss from cerebral infarction and other conditions. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydrophobic: Not readily absorbing water, or being adversely affected by water, as a hydrophobic colloid. [EU] Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ascorbic acid can result in impaired hydroxyproline formation. [NIH] Hyperbilirubinemia: Pathologic process consisting of an abnormal increase in the amount of bilirubin in the circulating blood, which may result in jaundice. [NIH] Hyperglycemia: Abnormally high blood sugar. [NIH] Hypersensitivity: Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen. [NIH] Hypertension: Persistently high arterial blood pressure. Currently accepted threshold levels are 140 mm Hg systolic and 90 mm Hg diastolic pressure. [NIH] Hyperuricemia: A buildup of uric acid (a byproduct of metabolism) in the blood; a side effect of some anticancer drugs. [NIH] Hypoglycemia: Abnormally low blood sugar [NIH] Hypogonadism: Condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. [NIH] Hypoplasia: Incomplete development or underdevelopment of an organ or tissue. [EU] Hypothalamus: Ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle. [NIH] Hypothyroidism: Deficiency of thyroid activity. In adults, it is most common in women and is characterized by decrease in basal metabolic rate, tiredness and lethargy, sensitivity to cold, and menstrual disturbances. If untreated, it progresses to full-blown myxoedema. In infants, severe hypothyroidism leads to cretinism. In juveniles, the manifestations are intermediate, with less severe mental and developmental retardation and only mild symptoms of the adult form. When due to pituitary deficiency of thyrotropin secretion it is called secondary hypothyroidism. [EU] Idiopathic: Describes a disease of unknown cause. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immunogenic: Producing immunity; evoking an immune response. [EU] Immunologic: The ability of the antibody-forming system to recall a previous experience with an antigen and to respond to a second exposure with the prompt production of large amounts of antibody. [NIH] Immunology: The study of the body's immune system. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] Imperforate Anus: A birth defect in which the anal canal fails to develop. The condition is

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treated with an operation. [NIH] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Incompetence: Physical or mental inadequacy or insufficiency. [EU] Incontinence: Inability to control the flow of urine from the bladder (urinary incontinence) or the escape of stool from the rectum (fecal incontinence). [NIH] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] Infantile: Pertaining to an infant or to infancy. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Infiltration: The diffusion or accumulation in a tissue or cells of substances not normal to it or in amounts of the normal. Also, the material so accumulated. [EU] Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Infusion: A method of putting fluids, including drugs, into the bloodstream. Also called intravenous infusion. [NIH] Ingestion: Taking into the body by mouth [NIH] Initiation: Mutation induced by a chemical reactive substance causing cell changes; being a step in a carcinogenic process. [NIH] Inositol: An isomer of glucose that has traditionally been considered to be a B vitamin although it has an uncertain status as a vitamin and a deficiency syndrome has not been identified in man. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1379) Inositol phospholipids are important in signal transduction. [NIH] Insight: The capacity to understand one's own motives, to be aware of one's own psychodynamics, to appreciate the meaning of symbolic behavior. [NIH] Insulin: A protein hormone secreted by beta cells of the pancreas. Insulin plays a major role in the regulation of glucose metabolism, generally promoting the cellular utilization of glucose. It is also an important regulator of protein and lipid metabolism. Insulin is used as a drug to control insulin-dependent diabetes mellitus. [NIH] Insulin-dependent diabetes mellitus: A disease characterized by high levels of blood glucose resulting from defects in insulin secretion, insulin action, or both. Autoimmune, genetic, and environmental factors are involved in the development of type I diabetes. [NIH] Intestines: The section of the alimentary canal from the stomach to the anus. It includes the large intestine and small intestine. [NIH] Intracellular: Inside a cell. [NIH]

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Intracranial Hemorrhages: Bleeding within the intracranial cavity, including hemorrhages in the brain and within the cranial epidural, subdural, and subarachnoid spaces. [NIH] Intracranial Hypertension: Increased pressure within the cranial vault. This may result from several conditions, including hydrocephalus; brain edema; intracranial masses; severe systemic hypertension; pseudotumor cerebri; and other disorders. [NIH] Intracranial Pressure: Pressure within the cranial cavity. It is influenced by brain mass, the circulatory system, CSF dynamics, and skull rigidity. [NIH] Intrinsic: Situated entirely within or pertaining exclusively to a part. [EU] Ions: An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as cations; those with a negative charge are anions. [NIH] Irritable Bowel Syndrome: A disorder that comes and goes. Nerves that control the muscles in the GI tract are too active. The GI tract becomes sensitive to food, stool, gas, and stress. Causes abdominal pain, bloating, and constipation or diarrhea. Also called spastic colon or mucous colitis. [NIH] Isoflavones: 3-Phenylchromones. Isomeric form of flavones in which the benzene group is attached to the 3 position of the benzopyran ring instead of the 2 position. [NIH] Jaundice: A clinical manifestation of hyperbilirubinemia, consisting of deposition of bile pigments in the skin, resulting in a yellowish staining of the skin and mucous membranes. [NIH]

Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Keratolytic: An agent that promotes keratolysis. [EU] Keto: It consists of 8 carbon atoms and within the endotoxins, it connects poysaccharide and lipid A. [NIH] Kidney Failure: The inability of a kidney to excrete metabolites at normal plasma levels under conditions of normal loading, or the inability to retain electrolytes under conditions of normal intake. In the acute form (kidney failure, acute), it is marked by uremia and usually by oliguria or anuria, with hyperkalemia and pulmonary edema. The chronic form (kidney failure, chronic) is irreversible and requires hemodialysis. [NIH] Kinetic: Pertaining to or producing motion. [EU] Labile: 1. Gliding; moving from point to point over the surface; unstable; fluctuating. 2. Chemically unstable. [EU] Lactation: The period of the secretion of milk. [EU] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called colon. [NIH] Laxative: An agent that acts to promote evacuation of the bowel; a cathartic or purgative. [EU]

Lectin: A complex molecule that has both protein and sugars. Lectins are able to bind to the outside of a cell and cause biochemical changes in it. Lectins are made by both animals and plants. [NIH] Lens: The transparent, double convex (outward curve on both sides) structure suspended between the aqueous and vitreous; helps to focus light on the retina. [NIH] Lenticular: 1. Pertaining to or shaped like a lens. 2. Pertaining to the crystalline lens. 3.

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Pertaining to the lenticular nucleus. [EU] Lesion: An area of abnormal tissue change. [NIH] Lethal: Deadly, fatal. [EU] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leucocyte: All the white cells of the blood and their precursors (myeloid cell series, lymphoid cell series) but commonly used to indicate granulocytes exclusive of lymphocytes. [NIH]

Leukocytes: White blood cells. These include granular leukocytes (basophils, eosinophils, and neutrophils) as well as non-granular leukocytes (lymphocytes and monocytes). [NIH] Lipid: Fat. [NIH] Lipid A: Lipid A is the biologically active component of lipopolysaccharides. It shows strong endotoxic activity and exhibits immunogenic properties. [NIH] Lipid Peroxidation: Peroxidase catalyzed oxidation of lipids using hydrogen peroxide as an electron acceptor. [NIH] Lipodystrophy: A collection of rare conditions resulting from defective fat metabolism and characterized by atrophy of the subcutaneous fat. They include total, congenital or acquired, partial, abdominal infantile, and localized lipodystrophy. [NIH] Lipopolysaccharides: Substance consisting of polysaccaride and lipid. [NIH] Lipoprotein: Any of the lipid-protein complexes in which lipids are transported in the blood; lipoprotein particles consist of a spherical hydrophobic core of triglycerides or cholesterol esters surrounded by an amphipathic monolayer of phospholipids, cholesterol, and apolipoproteins; the four principal classes are high-density, low-density, and very-lowdensity lipoproteins and chylomicrons. [EU] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Liver cancer: A disease in which malignant (cancer) cells are found in the tissues of the liver. [NIH]

Liver Transplantation: The transference of a part of or an entire liver from one human or animal to another. [NIH] Localization: The process of determining or marking the location or site of a lesion or disease. May also refer to the process of keeping a lesion or disease in a specific location or site. [NIH] Localized: Cancer which has not metastasized yet. [NIH] Low-density lipoprotein: Lipoprotein that contains most of the cholesterol in the blood. LDL carries cholesterol to the tissues of the body, including the arteries. A high level of LDL increases the risk of heart disease. LDL typically contains 60 to 70 percent of the total serum cholesterol and both are directly correlated with CHD risk. [NIH] Lower Esophageal Sphincter: The muscle between the esophagus and stomach. When a person swallows, this muscle relaxes to let food pass from the esophagus to the stomach. It stays closed at other times to keep stomach contents from flowing back into the esophagus. [NIH]

Lymph: The almost colorless fluid that travels through the lymphatic system and carries cells that help fight infection and disease. [NIH] Lymph node: A rounded mass of lymphatic tissue that is surrounded by a capsule of connective tissue. Also known as a lymph gland. Lymph nodes are spread out along lymphatic vessels and contain many lymphocytes, which filter the lymphatic fluid (lymph).

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[NIH]

Lymphatic: The tissues and organs, including the bone marrow, spleen, thymus, and lymph nodes, that produce and store cells that fight infection and disease. [NIH] Lymphatic system: The tissues and organs that produce, store, and carry white blood cells that fight infection and other diseases. This system includes the bone marrow, spleen, thymus, lymph nodes and a network of thin tubes that carry lymph and white blood cells. These tubes branch, like blood vessels, into all the tissues of the body. [NIH] Lymphoblasts: Interferon produced predominantly by leucocyte cells. [NIH] Lymphocyte: A white blood cell. Lymphocytes have a number of roles in the immune system, including the production of antibodies and other substances that fight infection and diseases. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. [NIH] Magnetic Resonance Spectroscopy: Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (magnetic resonance imaging). [NIH] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Mannitol: A diuretic and renal diagnostic aid related to sorbitol. It has little significant energy value as it is largely eliminated from the body before any metabolism can take place. It can be used to treat oliguria associated with kidney failure or other manifestations of inadequate renal function and has been used for determination of glomerular filtration rate. Mannitol is also commonly used as a research tool in cell biological studies, usually to control osmolarity. [NIH] Maple Syrup Urine Disease: A genetic disorder involving deficiency of an enzyme necessary in the metabolism of branched-chain amino acids, and named for the characteristic odor of the urine. [NIH] Mass Screening: Organized periodic procedures performed on large groups of people for the purpose of detecting disease. [NIH] Mediate: Indirect; accomplished by the aid of an intervening medium. [EU] Mediator: An object or substance by which something is mediated, such as (1) a structure of the nervous system that transmits impulses eliciting a specific response; (2) a chemical substance (transmitter substance) that induces activity in an excitable tissue, such as nerve or muscle; or (3) a substance released from cells as the result of the interaction of antigen with antibody or by the action of antigen with a sensitized lymphocyte. [EU] Medical Records: Recording of pertinent information concerning patient's illness or illnesses. [NIH] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanin: The substance that gives the skin its color. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Mental: Pertaining to the mind; psychic. 2. (L. mentum chin) pertaining to the chin. [EU]

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Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior. [NIH]

Metabolic disorder: A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme. [NIH] Metabolite: Any substance produced by metabolism or by a metabolic process. [EU] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microbe: An organism which cannot be observed with the naked eye; e. g. unicellular animals, lower algae, lower fungi, bacteria. [NIH] Micro-organism: An organism which cannot be observed with the naked eye; e. g. unicellular animals, lower algae, lower fungi, bacteria. [NIH] Milliliter: A measure of volume for a liquid. A milliliter is approximately 950-times smaller than a quart and 30-times smaller than a fluid ounce. A milliliter of liquid and a cubic centimeter (cc) of liquid are the same. [NIH] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecular mass: The sum of the atomic masses of all atoms in a molecule, based on a scale in which the atomic masses of hydrogen, carbon, nitrogen, and oxygen are 1, 12, 14, and 16, respectively. For example, the molecular mass of water, which has two atoms of hydrogen and one atom of oxygen, is 18 (i.e., 2 + 16). [NIH] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monitor: An apparatus which automatically records such physiological signs as respiration, pulse, and blood pressure in an anesthetized patient or one undergoing surgical or other procedures. [NIH] Monocytes: Large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood; contain a large, oval or somewhat indented nucleus surrounded by voluminous cytoplasm and numerous organelles. [NIH] Monophosphate: So called second messenger for neurotransmitters and hormones. [NIH] Morphology: The science of the form and structure of organisms (plants, animals, and other forms of life). [NIH] Motility: The ability to move spontaneously. [EU] Muscle, Smooth, Vascular: The nonstriated, involuntary muscle tissue of blood vessels. [NIH]

Musculature: The muscular apparatus of the body, or of any part of it. [EU] Mutagenic: Inducing genetic mutation. [EU] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal agency for cancer research. NCI conducts, coordinates, and funds cancer research, training,

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health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Neonatal: Pertaining to the first four weeks after birth. [EU] Neonatal Hepatitis: Irritation of the liver with no known cause. Occurs in newborn babies. Symptoms include jaundice and liver cell changes. [NIH] Neonatal period: The first 4 weeks after birth. [NIH] Neonatal Screening: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. [NIH] Nephropathy: Disease of the kidneys. [EU] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neuroleptic: A term coined to refer to the effects on cognition and behaviour of antipsychotic drugs, which produce a state of apathy, lack of initiative, and limited range of emotion and in psychotic patients cause a reduction in confusion and agitation and normalization of psychomotor activity. [EU] Neurologic: Having to do with nerves or the nervous system. [NIH] Neuropathy: A problem in any part of the nervous system except the brain and spinal cord. Neuropathies can be caused by infection, toxic substances, or disease. [NIH] Neurotransmitter: Any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. Among the many substances that have the properties of a neurotransmitter are acetylcholine, norepinephrine, epinephrine, dopamine, glycine, y-aminobutyrate, glutamic acid, substance P, enkephalins, endorphins, and serotonin. [EU] Neutrophil: A type of white blood cell. [NIH] Niacin: Water-soluble vitamin of the B complex occurring in various animal and plant tissues. Required by the body for the formation of coenzymes NAD and NADP. Has pellagra-curative, vasodilating, and antilipemic properties. [NIH] Nitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight 14. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells. [NIH] Nuclear: A test of the structure, blood flow, and function of the kidneys. The doctor injects a mildly radioactive solution into an arm vein and uses x-rays to monitor its progress through the kidneys. [NIH] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH]

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Nucleic acid: Either of two types of macromolecule (DNA or RNA) formed by polymerization of nucleotides. Nucleic acids are found in all living cells and contain the information (genetic code) for the transfer of genetic information from one generation to the next. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Occupational Therapy: The field concerned with utilizing craft or work activities in the rehabilitation of patients. Occupational therapy can also refer to the activities themselves. [NIH]

Oedema: The presence of abnormally large amounts of fluid in the intercellular tissue spaces of the body; usually applied to demonstrable accumulation of excessive fluid in the subcutaneous tissues. Edema may be localized, due to venous or lymphatic obstruction or to increased vascular permeability, or it may be systemic due to heart failure or renal disease. Collections of edema fluid are designated according to the site, e.g. ascites (peritoneal cavity), hydrothorax (pleural cavity), and hydropericardium (pericardial sac). Massive generalized edema is called anasarca. [EU] Oligonucleotide Probes: Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin. [NIH] Oliguria: Clinical manifestation of the urinary system consisting of a decrease in the amount of urine secreted. [NIH] Opacity: Degree of density (area most dense taken for reading). [NIH] Ophthalmic: Pertaining to the eye. [EU] Opsin: A protein formed, together with retinene, by the chemical breakdown of metarhodopsin. [NIH] Oral Health: The optimal state of the mouth and normal functioning of the organs of the mouth without evidence of disease. [NIH] Osmolarity: The concentration of osmotically active particles expressed in terms of osmoles of solute per litre of solution. [EU] Osmosis: Tendency of fluids (e.g., water) to move from the less concentrated to the more concentrated side of a semipermeable membrane. [NIH] Osmotic: Pertaining to or of the nature of osmosis (= the passage of pure solvent from a solution of lesser to one of greater solute concentration when the two solutions are separated by a membrane which selectively prevents the passage of solute molecules, but is permeable to the solvent). [EU] Outpatient: A patient who is not an inmate of a hospital but receives diagnosis or treatment in a clinic or dispensary connected with the hospital. [NIH] Ovary: Either of the paired glands in the female that produce the female germ cells and secrete some of the female sex hormones. [NIH] Oxidation: The act of oxidizing or state of being oxidized. Chemically it consists in the increase of positive charges on an atom or the loss of negative charges. Most biological oxidations are accomplished by the removal of a pair of hydrogen atoms (dehydrogenation) from a molecule. Such oxidations must be accompanied by reduction of an acceptor

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molecule. Univalent o. indicates loss of one electron; divalent o., the loss of two electrons. [EU]

Oxidative Stress: A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi). [NIH] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH] Pancreatic Juice: The fluid containing digestive enzymes secreted by the pancreas in response to food in the duodenum. [NIH] Parotid: The space that contains the parotid gland, the facial nerve, the external carotid artery, and the retromandibular vein. [NIH] Pathogenesis: The cellular events and reactions that occur in the development of disease. [NIH]

Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathologist: A doctor who identifies diseases by studying cells and tissues under a microscope. [NIH] Pathophysiology: Altered functions in an individual or an organ due to disease. [NIH] Patient Education: The teaching or training of patients concerning their own health needs. [NIH]

Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Peritoneal: Having to do with the peritoneum (the tissue that lines the abdominal wall and covers most of the organs in the abdomen). [NIH] Peritoneal Cavity: The space enclosed by the peritoneum. It is divided into two portions, the greater sac and the lesser sac or omental bursa, which lies behind the stomach. The two sacs are connected by the foramen of Winslow, or epiploic foramen. [NIH] Peroxidase: A hemeprotein from leukocytes. Deficiency of this enzyme leads to a hereditary disorder coupled with disseminated moniliasis. It catalyzes the conversion of a donor and peroxide to an oxidized donor and water. EC 1.11.1.7. [NIH] Peroxide: Chemical compound which contains an atom group with two oxygen atoms tied to each other. [NIH] Personality Development: Growth of habitual patterns of behavior in childhood and adolescence. [NIH] PH: The symbol relating the hydrogen ion (H+) concentration or activity of a solution to that of a given standard solution. Numerically the pH is approximately equal to the negative logarithm of H+ concentration expressed in molarity. pH 7 is neutral; above it alkalinity increases and below it acidity increases. [EU] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Pharynx: The hollow tube about 5 inches long that starts behind the nose and ends at the top of the trachea (windpipe) and esophagus (the tube that goes to the stomach). [NIH]

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Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phenyl: Ingredient used in cold and flu remedies. [NIH] Phenylalanine: An aromatic amino acid that is essential in the animal diet. It is a precursor of melanin, dopamine, noradrenalin, and thyroxine. [NIH] Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides; glycerophospholipids) or sphingosine (sphingolipids). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system. [NIH] Phosphorus: A non-metallic element that is found in the blood, muscles, nevers, bones, and teeth, and is a component of adenosine triphosphate (ATP; the primary energy source for the body's cells.) [NIH] Phosphorylates: Attached to a phosphate group. [NIH] Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety. [NIH] Phosphotransferases: A rather large group of enzymes comprising not only those transferring phosphate but also diphosphate, nucleotidyl residues, and others. These have also been subdivided according to the acceptor group. (From Enzyme Nomenclature, 1992) EC 2.7. [NIH] Physical Therapy: The restoration of function and the prevention of disability following disease or injury with the use of light, heat, cold, water, electricity, ultrasound, and exercise. [NIH]

Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Pigments: Any normal or abnormal coloring matter in plants, animals, or micro-organisms. [NIH]

Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma cells: A type of white blood cell that produces antibodies. [NIH] Pleural: A circumscribed area of hyaline whorled fibrous tissue which appears on the surface of the parietal pleura, on the fibrous part of the diaphragm or on the pleura in the interlobar fissures. [NIH] Pleural cavity: A space enclosed by the pleura (thin tissue covering the lungs and lining the interior wall of the chest cavity). It is bound by thin membranes. [NIH] Pneumonia: Inflammation of the lungs. [NIH] Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [NIH] Poisoning: A condition or physical state produced by the ingestion, injection or inhalation

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of, or exposure to a deleterious agent. [NIH] Pollen: The male fertilizing element of flowering plants analogous to sperm in animals. It is released from the anthers as yellow dust, to be carried by insect or other vectors, including wind, to the ovary (stigma) of other flowers to produce the embryo enclosed by the seed. The pollens of many plants are allergenic. [NIH] Polymorphism: The occurrence together of two or more distinct forms in the same population. [NIH] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polyposis: The development of numerous polyps (growths that protrude from a mucous membrane). [NIH] Polysaccharide: A type of carbohydrate. It contains sugar molecules that are linked together chemically. [NIH] Porphyria: A group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway. The porphyrias are usually divided into three broad groups, erythropoietic, hepatic, and erythrohepatic, according to the major sites of abnormal porphyrin synthesis. [NIH]

Porphyrins: A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. The porphyrins, in combination with iron, form the heme component in biologically significant compounds such as hemoglobin and myoglobin. [NIH] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH] Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Primary Biliary Cirrhosis: A chronic liver disease. Slowly destroys the bile ducts in the liver. This prevents release of bile. Long-term irritation of the liver may cause scarring and cirrhosis in later stages of the disease. [NIH] Primary Sclerosing Cholangitis: Irritation, scarring, and narrowing of the bile ducts inside and outside the liver. Bile builds up in the liver and may damage its cells. Many people with this condition also have ulcerative colitis. [NIH] Probe: An instrument used in exploring cavities, or in the detection and dilatation of strictures, or in demonstrating the potency of channels; an elongated instrument for exploring or sounding body cavities. [NIH]

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Proctitis: Inflammation of the rectum. [EU] Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Promoter: A chemical substance that increases the activity of a carcinogenic process. [NIH] Promotor: In an operon, a nucleotide sequence located at the operator end which contains all the signals for the correct initiation of genetic transcription by the RNA polymerase holoenzyme and determines the maximal rate of RNA synthesis. [NIH] Prophylaxis: An attempt to prevent disease. [NIH] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Protease: Proteinase (= any enzyme that catalyses the splitting of interior peptide bonds in a protein). [EU] Protein C: A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proteolytic: 1. Pertaining to, characterized by, or promoting proteolysis. 2. An enzyme that promotes proteolysis (= the splitting of proteins by hydrolysis of the peptide bonds with formation of smaller polypeptides). [EU] Protons: Stable elementary particles having the smallest known positive charge, found in the nuclei of all elements. The proton mass is less than that of a neutron. A proton is the nucleus of the light hydrogen atom, i.e., the hydrogen ion. [NIH] Prune Belly Syndrome: A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin. [NIH] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Pulmonary: Relating to the lungs. [NIH] Pulse: The rhythmical expansion and contraction of an artery produced by waves of pressure caused by the ejection of blood from the left ventricle of the heart as it contracts. [NIH]

Purines: A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include adenine and guanine, constituents of nucleic acids, as well as many alkaloids such as caffeine and theophylline. Uric acid is the metabolic

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end product of purine metabolism. [NIH] Pyramidal Tracts: Fibers that arise from cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord. Many authorities say the pyramidal tracts include both the corticospinal and corticobulbar tracts. [NIH] Pyrimidines: A family of 6-membered heterocyclic compounds occurring in nature in a wide variety of forms. They include several nucleic acid constituents (cytosine, thymine, and uracil) and form the basic structure of the barbiturates. [NIH] Quercetin: Aglucon of quercetrin, rutin, and other glycosides. It is widely distributed in the plant kingdom, especially in rinds and barks, clover blossoms, and ragweed pollen. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radioactive: Giving off radiation. [NIH] Radioisotope: An unstable element that releases radiation as it breaks down. Radioisotopes can be used in imaging tests or as a treatment for cancer. [NIH] Raffinose: A trisaccharide occurring in Australian manna (from Eucalyptus spp, Myrtaceae) and in cottonseed meal. [NIH] Randomized: Describes an experiment or clinical trial in which animal or human subjects are assigned by chance to separate groups that compare different treatments. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Receptors, Serotonin: Cell-surface proteins that bind serotonin and trigger intracellular changes which influence the behavior of cells. Several types of serotonin receptors have been recognized which differ in their pharmacology, molecular biology, and mode of action. [NIH] Rectal: By or having to do with the rectum. The rectum is the last 8 to 10 inches of the large intestine and ends at the anus. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Reductase: Enzyme converting testosterone to dihydrotestosterone. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Refraction: A test to determine the best eyeglasses or contact lenses to correct a refractive error (myopia, hyperopia, or astigmatism). [NIH] Regimen: A treatment plan that specifies the dosage, the schedule, and the duration of treatment. [NIH] Regurgitation: A backward flowing, as the casting up of undigested food, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent. [EU] Resorption: The loss of substance through physiologic or pathologic means, such as loss of dentin and cementum of a tooth, or of the alveolar process of the mandible or maxilla. [EU] Response Elements: Nucleotide sequences, usually upstream, which are recognized by specific regulatory transcription factors, thereby causing gene response to various regulatory agents. These elements may be found in both promotor and enhancer regions. [NIH]

Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The

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outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retinal: 1. Pertaining to the retina. 2. The aldehyde of retinol, derived by the oxidative enzymatic splitting of absorbed dietary carotene, and having vitamin A activity. In the retina, retinal combines with opsins to form visual pigments. One isomer, 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin, or visual purple. Another, all-trans retinal (trans-r.); visual yellow; xanthopsin) results from the bleaching of rhodopsin by light, in which the 11-cis form is converted to the all-trans form. Retinal also combines with opsins in the cones (photopsins) to form the three pigments responsible for colour vision. Called also retinal, and retinene1. [EU] Retinol: Vitamin A. It is essential for proper vision and healthy skin and mucous membranes. Retinol is being studied for cancer prevention; it belongs to the family of drugs called retinoids. [NIH] Retinopathy: 1. Retinitis (= inflammation of the retina). 2. Retinosis (= degenerative, noninflammatory condition of the retina). [EU] Retrospective: Looking back at events that have already taken place. [NIH] Retrospective study: A study that looks backward in time, usually using medical records and interviews with patients who already have or had a disease. [NIH] Rhodopsin: A photoreceptor protein found in retinal rods. It is a complex formed by the binding of retinal, the oxidized form of retinol, to the protein opsin and undergoes a series of complex reactions in response to visible light resulting in the transmission of nerve impulses to the brain. [NIH] Risk factor: A habit, trait, condition, or genetic alteration that increases a person's chance of developing a disease. [NIH] Rods: One type of specialized light-sensitive cells (photoreceptors) in the retina that provide side vision and the ability to see objects in dim light (night vision). [NIH] Rubella: An acute, usually benign, infectious disease caused by a togavirus and most often affecting children and nonimmune young adults, in which the virus enters the respiratory tract via droplet nuclei and spreads to the lymphatic system. It is characterized by a slight cold, sore throat, and fever, followed by enlargement of the postauricular, suboccipital, and cervical lymph nodes, and the appearances of a fine pink rash that begins on the head and spreads to become generalized. Called also German measles, roetln, röteln, and three-day measles, and rubeola in French and Spanish. [EU] Rutin: 3-((6-O-(6-Deoxy-alpha-L-mannopyranosyl)-beta-D-glucopyranosyl)oxy)-2-(3,4dihydroxyphenyl)-5,7-dihydroxy-4H-1-benzopyran-4-one. Found in many plants, including buckwheat, tobacco, forsythia, hydrangea, pansies, etc. It has been used therapeutically to decrease capillary fragility. [NIH] Sarcoidosis: An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands. [NIH] Schizophrenia: A mental disorder characterized by a special type of disintegration of the personality. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Secretory: Secreting; relating to or influencing secretion or the secretions. [NIH]

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Sepsis: The presence of bacteria in the bloodstream. [NIH] Septicemia: Systemic disease associated with the presence and persistence of pathogenic microorganisms or their toxins in the blood. Called also blood poisoning. [EU] Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from glycine or threonine. It is involved in the biosynthesis of purines, pyrimidines, and other amino acids. [NIH] Serotonin: A biochemical messenger and regulator, synthesized from the essential amino acid L-tryptophan. In humans it is found primarily in the central nervous system, gastrointestinal tract, and blood platelets. Serotonin mediates several important physiological functions including neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity. Multiple receptor families (receptors, serotonin) explain the broad physiological actions and distribution of this biochemical mediator. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Skeletal: Having to do with the skeleton (boney part of the body). [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Smooth muscle: Muscle that performs automatic tasks, such as constricting blood vessels. [NIH]

Soft tissue: Refers to muscle, fat, fibrous tissue, blood vessels, or other supporting tissue of the body. [NIH] Solvent: 1. Dissolving; effecting a solution. 2. A liquid that dissolves or that is capable of dissolving; the component of a solution that is present in greater amount. [EU] Soma: The body as distinct from the mind; all the body tissue except the germ cells; all the axial body. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Sorbitol: A polyhydric alcohol with about half the sweetness of sucrose. Sorbitol occurs naturally and is also produced synthetically from glucose. It was formerly used as a diuretic and may still be used as a laxative and in irrigating solutions for some surgical procedures. It is also used in many manufacturing processes, as a pharmaceutical aid, and in several research applications. [NIH] Sound wave: An alteration of properties of an elastic medium, such as pressure, particle displacement, or density, that propagates through the medium, or a superposition of such alterations. [NIH] Spastic: 1. Of the nature of or characterized by spasms. 2. Hypertonic, so that the muscles are stiff and the movements awkward. 3. A person exhibiting spasticity, such as occurs in spastic paralysis or in cerebral palsy. [EU]

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Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Specificity: Degree of selectivity shown by an antibody with respect to the number and types of antigens with which the antibody combines, as well as with respect to the rates and the extents of these reactions. [NIH] Spectrometer: An apparatus for determining spectra; measures quantities such as wavelengths and relative amplitudes of components. [NIH] Spectroscopic: The recognition of elements through their emission spectra. [NIH] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Speech Disorders: Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language. [NIH] Speech pathologist: A specialist who evaluates and treats people with communication and swallowing problems. Also called a speech therapist. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Spleen: An organ that is part of the lymphatic system. The spleen produces lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is located on the left side of the abdomen near the stomach. [NIH] Sprue: A non febrile tropical disease of uncertain origin. [NIH] Stabilization: The creation of a stable state. [EU] Steatosis: Fatty degeneration. [EU] Stimulus: That which can elicit or evoke action (response) in a muscle, nerve, gland or other excitable issue, or cause an augmenting action upon any function or metabolic process. [NIH] Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Stool: The waste matter discharged in a bowel movement; feces. [NIH] Stress: Forcibly exerted influence; pressure. Any condition or situation that causes strain or tension. Stress may be either physical or psychologic, or both. [NIH] Stupor: Partial or nearly complete unconsciousness, manifested by the subject's responding only to vigorous stimulation. Also, in psychiatry, a disorder marked by reduced responsiveness. [EU] Subacute: Somewhat acute; between acute and chronic. [EU] Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Subcutaneous: Beneath the skin. [NIH] Substance P: An eleven-amino acid neurotransmitter that appears in both the central and

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peripheral nervous systems. It is involved in transmission of pain, causes rapid contractions of the gastrointestinal smooth muscle, and modulates inflammatory and immune responses. [NIH]

Substrate: A substance upon which an enzyme acts. [EU] Suction: The removal of secretions, gas or fluid from hollow or tubular organs or cavities by means of a tube and a device that acts on negative pressure. [NIH] Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH] Systemic: Affecting the entire body. [NIH] Telencephalon: Paired anteriolateral evaginations of the prosencephalon plus the lamina terminalis. The cerebral hemispheres are derived from it. Many authors consider cerebrum a synonymous term to telencephalon, though a minority include diencephalon as part of the cerebrum (Anthoney, 1994). [NIH] Testosterone: A hormone that promotes the development and maintenance of male sex characteristics. [NIH] Thalamus: Paired bodies containing mostly gray substance and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups. [NIH]

Threonine: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins. [NIH] Threshold: For a specified sensory modality (e. g. light, sound, vibration), the lowest level (absolute threshold) or smallest difference (difference threshold, difference limen) or intensity of the stimulus discernible in prescribed conditions of stimulation. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyroid Gland: A highly vascular endocrine gland consisting of two lobes, one on either side of the trachea, joined by a narrow isthmus; it produces the thyroid hormones which are concerned in regulating the metabolic rate of the body. [NIH] Thyrotropin: A peptide hormone secreted by the anterior pituitary. It promotes the growth of the thyroid gland and stimulates the synthesis of thyroid hormones and the release of thyroxine by the thyroid gland. [NIH] Thyroxine: An amino acid of the thyroid gland which exerts a stimulating effect on thyroid metabolism. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tomography: Imaging methods that result in sharp images of objects located on a chosen plane and blurred images located above or below the plane. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicity: The quality of being poisonous, especially the degree of virulence of a toxic microbe or of a poison. [EU] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxins: Specific, characterizable, poisonous chemicals, often proteins, with specific

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biological properties, including immunogenicity, produced by microbes, higher plants, or animals. [NIH] Trachea: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. [NIH] Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. [NIH] Transduction: The transfer of genes from one cell to another by means of a viral (in the case of bacteria, a bacteriophage) vector or a vector which is similar to a virus particle (pseudovirion). [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Transferases: Transferases are enzymes transferring a group, for example, the methyl group or a glycosyl group, from one compound (generally regarded as donor) to another compound (generally regarded as acceptor). The classification is based on the scheme "donor:acceptor group transferase". (Enzyme Nomenclature, 1992) EC 2. [NIH] Transfusion: The infusion of components of blood or whole blood into the bloodstream. The blood may be donated from another person, or it may have been taken from the person earlier and stored until needed. [NIH] Translation: The process whereby the genetic information present in the linear sequence of ribonucleotides in mRNA is converted into a corresponding sequence of amino acids in a protein. It occurs on the ribosome and is unidirectional. [NIH] Translocation: The movement of material in solution inside the body of the plant. [NIH] Transplantation: Transference of a tissue or organ, alive or dead, within an individual, between individuals of the same species, or between individuals of different species. [NIH] Trypsin: A serine endopeptidase that is formed from trypsinogen in the pancreas. It is converted into its active form by enteropeptidase in the small intestine. It catalyzes hydrolysis of the carboxyl group of either arginine or lysine. EC 3.4.21.4. [NIH] Tryptophan: An essential amino acid that is necessary for normal growth in infants and for nitrogen balance in adults. It is a precursor serotonin and niacin. [NIH] Tumor marker: A substance sometimes found in an increased amount in the blood, other body fluids, or tissues and which may mean that a certain type of cancer is in the body. Examples of tumor markers include CA 125 (ovarian cancer), CA 15-3 (breast cancer), CEA (ovarian, lung, breast, pancreas, and gastrointestinal tract cancers), and PSA (prostate cancer). Also called biomarker. [NIH] Tyrosine: A non-essential amino acid. In animals it is synthesized from phenylalanine. It is also the precursor of epinephrine, thyroid hormones, and melanin. [NIH] Ulcerative colitis: Chronic inflammation of the colon that produces ulcers in its lining. This condition is marked by abdominal pain, cramps, and loose discharges of pus, blood, and mucus from the bowel. [NIH] Uracil: An anticancer drug that belongs to the family of drugs called alkylating agents. [NIH] Urea: A compound (CO(NH2)2), formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Uric: A kidney stone that may result from a diet high in animal protein. When the body

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breaks down this protein, uric acid levels rise and can form stones. [NIH] Uridine Diphosphate: A uracil nucleotide containing a pyrophosphate group esterified to C5 of the sugar moiety. [NIH] Uridine Diphosphate Galactose: A nucleoside diphosphate sugar which can be epimerized into UDPglucose for entry into the mainstream of carbohydrate metabolism. Serves as a source of galactose in the synthesis of lipopolysaccharides, cerebrosides, and lactose. [NIH] Urinary: Having to do with urine or the organs of the body that produce and get rid of urine. [NIH] Urinary tract: The organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra. [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Venous: Of or pertaining to the veins. [EU] Ventricle: One of the two pumping chambers of the heart. The right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery. The left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta. [NIH] Ventricular: Pertaining to a ventricle. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villi: The tiny, fingerlike projections on the surface of the small intestine. Villi help absorb nutrients. [NIH] Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. [NIH] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Viscera: Any of the large interior organs in any one of the three great cavities of the body, especially in the abdomen. [NIH] Vitamin A: A substance used in cancer prevention; it belongs to the family of drugs called retinoids. [NIH] Vitreous: Glasslike or hyaline; often used alone to designate the vitreous body of the eye (corpus vitreum). [EU] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] White blood cell: A type of cell in the immune system that helps the body fight infection and disease. White blood cells include lymphocytes, granulocytes, macrophages, and others. [NIH]

Windpipe: A rigid tube, 10 cm long, extending from the cricoid cartilage to the upper border of the fifth thoracic vertebra. [NIH]

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Xenograft: The cells of one species transplanted to another species. [NIH] X-ray: High-energy radiation used in low doses to diagnose diseases and in high doses to treat cancer. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

135

INDEX A Abdomen, 97, 101, 117, 122, 125, 129, 132 Abdominal, 97, 116, 117, 122, 125, 131 Abdominal Pain, 97, 116, 131 Aberrant, 7, 97 Acceptor, 97, 110, 117, 121, 123, 131 Acetaminophen, 6, 71, 97 Acetylgalactosamine, 7, 17, 97 Acremonium, 97, 103 Acyl, 64, 97 Adaptability, 97, 103 Adolescence, 97, 122 Adrenergic, 97, 100, 108, 109 Adverse Effect, 97, 104, 128 Affinity, 64, 65, 97, 104 Aldose Reductase Inhibitor, 11, 64, 65, 97 Algorithms, 98, 101 Alkaline, 98, 102 Alleles, 36, 98, 113 Alpha 1-Antitrypsin, 13, 98 Alpha 1-Antitrypsin Deficiency, 13, 98 Alpha-1, 26, 98, 108 Alternative medicine, 71, 98 Amino acid, 66, 98, 99, 104, 111, 112, 118, 122, 123, 124, 125, 128, 129, 130, 131 Amino Acid Sequence, 98, 99, 111 Ammonia, 98, 131 Amnion, 98 Amniotic Fluid, 49, 98 Ampulla, 98, 104 Anal, 98, 114 Analgesic, 97, 98 Analytes, 9, 98 Anaphylatoxins, 98, 105 Anatomical, 99, 103, 108, 114 Animal model, 10, 99 Anions, 99, 116 Antagonism, 99, 104 Antibacterial, 99, 129 Antibiotic, 99, 102, 129 Antibodies, 7, 99, 109, 112, 118, 123 Antibody, 7, 97, 99, 105, 112, 113, 114, 115, 118, 121, 129 Antigen, 7, 97, 99, 105, 109, 111, 113, 114, 115, 118 Antigen-Antibody Complex, 99, 105 Anti-inflammatory, 97, 99 Antioxidant, 59, 99, 122

Antipsychotic, 99, 104, 120 Antipyretic, 97, 100 Anus, 98, 100, 105, 115, 126 Apolipoproteins, 100, 117 Aqueous, 100, 106, 116 Arteries, 100, 101, 106, 117, 119 Artery, 100, 106, 122, 125, 132 Ascites, 100, 121 Assay, 35, 37, 41, 45, 100 Ataxia, 100, 113 Atresia, 73, 100, 101 Atrophy, 100, 117 Attenuated, 100, 107 Atypical, 100, 104 Auditory, 100, 109 Autopsy, 28, 100 B Bacteria, 97, 99, 100, 107, 108, 119, 128, 129, 131 Basal Ganglia, 100, 102 Basophils, 100, 117 Benign, 100, 102, 112, 127 Benzene, 66, 101, 116 Bilateral, 15, 101 Bile, 101, 104, 110, 111, 116, 117, 124 Bile Acids, 101, 111 Bile duct, 101, 104, 124 Bile Pigments, 101, 116 Biliary, 19, 72, 101, 104 Biliary Atresia, 19, 72, 101 Biliary Tract, 101 Bilirubin, 101, 114 Biopsy, 6, 71, 101 Biosynthesis, 101, 128 Biotechnology, 12, 13, 79, 101 Bladder, 101, 105, 115, 125, 131, 132 Bloating, 101, 116 Blood Coagulation, 101, 102 Blood Platelets, 101, 128 Blood transfusion, 36, 101 Blood vessel, 101, 102, 104, 112, 118, 119, 128, 132 Blot, 101, 121 Body Fluids, 101, 131 Bolus, 6, 101 Bolus infusion, 101 Bone Density, 21, 102 Bone Marrow, 101, 102, 118, 119

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Brain Diseases, 5, 102 Brain Neoplasms, 102, 113 Broad-spectrum, 102, 103 C Calcium, 11, 21, 102, 105 Capillary, 17, 102, 111, 127 Carbohydrate, 7, 8, 102, 112, 124, 132 Carboxy, 65, 102 Carcinogenic, 101, 102, 115, 125 Cardiovascular, 102, 128 Carotene, 102, 127 Case report, 30, 31, 102 Cataract, 10, 11, 61, 64, 65, 102 Cations, 103, 116 Cell membrane, 64, 65, 103, 110, 123 Cell Survival, 45, 103 Central Nervous System, 101, 102, 103, 104, 109, 112, 113, 128 Central Nervous System Infections, 103, 112, 113 Cephalosporins, 35, 103 Cerebellum, 102, 103 Cerebral, 17, 19, 59, 100, 102, 103, 109, 113, 126, 128, 130 Cerebral Cortex, 59, 100, 102, 103, 126 Cerebrospinal, 103, 113 Cerebrospinal fluid, 103, 113 Cerebrum, 103, 130 Cervical, 103, 127 Character, 103, 106 Chemotactic Factors, 103, 105 Chin, 103, 118 Cholangitis, 73, 104 Cholecystitis, 73, 104 Cholestasis, 40, 104 Cholesterol, 101, 104, 108, 117 Cholesterol Esters, 104, 117 Chromatin, 104, 109 Chromosome, 104, 113 Chronic, 61, 104, 110, 115, 116, 124, 129, 131 Chylomicrons, 104, 117 Circulatory system, 104, 116 Cirrhosis, 71, 73, 84, 104, 113, 124 CIS, 48, 104, 127 Clinical trial, 4, 79, 104, 126 Cloning, 101, 104 Clozapine, 19, 104 Codon, 39, 104, 111 Coenzymes, 105, 120 Colitis, 73, 105, 116 Collagen, 98, 105, 110

Colloidal, 105, 108 Colon, 105, 116, 131 Comatose, 66, 105 Complement, 7, 99, 105 Complementary and alternative medicine, 59, 62, 105 Complementary medicine, 59, 105 Compliance, 32, 105 Computational Biology, 79, 106 Concentric, 10, 106 Conduction, 64, 65, 106 Cones, 106, 127 Connective Tissue, 102, 105, 106, 110, 111, 117 Connexins, 106, 110 Constipation, 100, 106, 116 Contraindications, ii, 106 Coordination, 7, 103, 106 Coronary, 106, 119 Coronary Thrombosis, 106, 119 Cortex, 11, 106, 109 Cortical, 11, 68, 106 Cranial, 19, 103, 106, 112, 116 Craniocerebral Trauma, 106, 112, 113 Curative, 106, 120 Cytoplasm, 100, 103, 106, 108, 109, 119 D Deamination, 106, 131 Degenerative, 10, 106, 113, 127 Deletion, 30, 106, 111 Delivery of Health Care, 107, 112 Density, 49, 102, 107, 117, 121, 128 Dental Care, 4, 107 Dental Caries, 4, 107 Deuterium, 107, 114 Developed Countries, 68, 107 Diagnostic procedure, 63, 107 Diarrhea, 107, 116 Diffusion, 107, 115 Digestion, 101, 107, 117, 129 Dihydrotestosterone, 107, 126 Dilation, 107, 113 Dilution, 49, 107 Direct, iii, 61, 107, 108, 126 Disposition, 6, 107 Dissociation, 97, 107 Distal, 107, 111 Diuretic, 107, 118, 128 Diverticula, 107 Diverticulitis, 73, 107 Diverticulum, 107, 108 Dopamine, 100, 104, 108, 120, 123

137

Doxazosin, 61, 108 E Edema, 17, 19, 108, 116, 121 Effector, 105, 108 Efficacy, 8, 61, 108 Elective, 47, 108 Electrons, 99, 108, 116, 118, 122, 126 Electrophoresis, 17, 39, 108 Elementary Particles, 108, 118, 125 Embryo, 98, 108, 124 Emphysema, 98, 108 Enamel, 22, 107, 108 Encephalopathy, 33, 108 Endogenous, 6, 28, 108, 131 Endotoxic, 108, 117 Endotoxins, 105, 108, 116 Enhancer, 109, 126 Environmental Health, 78, 80, 109 Enzymatic, 8, 98, 102, 105, 107, 109, 127 Enzyme, 4, 8, 9, 27, 30, 36, 51, 64, 65, 66, 67, 68, 72, 84, 94, 97, 105, 108, 109, 110, 118, 119, 122, 123, 125, 126, 130, 131, 132 Eosinophils, 109, 117 Epinephrine, 97, 108, 109, 120, 131 Epithelial, 10, 11, 109 Epithelial Cells, 10, 11, 109 Epithelium, 11, 109 Epitopes, 8, 109 Erythrocytes, 15, 22, 24, 25, 32, 36, 43, 45, 102, 109 Esophagus, 73, 100, 109, 111, 117, 122, 129 Evoked Potentials, 15, 109 Exogenous, 60, 108, 109 Extracellular, 106, 109, 110, 111 Extracellular Matrix, 106, 109, 110, 111 Extrapyramidal, 68, 100, 108, 109 F Failure to Thrive, 34, 66, 109 Family Planning, 79, 109 Fat, 4, 102, 109, 117, 128 Fatty Liver, 72, 109 Febrile, 109, 129 Fetus, 109, 124 Fibroblasts, 32, 110 Fibrosis, 28, 73, 110, 127 Filtration, 62, 110 Flatus, 110 Fluorescence, 17, 37, 67, 110 Free Radicals, 99, 107, 110 Fructose Intolerance, 4, 24, 34, 73, 110 Fungus, 103, 110

G Galactitol, 5, 23, 24, 33, 43, 48, 49, 52, 64, 65, 110 Galactokinase, 9, 44, 45, 110 Gallbladder, 97, 101, 104, 110 Gap Junctions, 11, 106, 110 Gas, 43, 98, 107, 110, 114, 116, 120, 130 Gasoline, 101, 111 Gastric, 111 Gastrin, 111, 113 Gastritis, 73, 111 Gastroesophageal Reflux, 73, 111 Gastrointestinal, 109, 111, 128, 130, 131 Gastrointestinal tract, 111, 128, 131 Gene Deletion, 6, 111 Genetic Code, 111, 121 Genetic Counseling, 68, 111 Genotype, 7, 67, 111, 123 Germ Cells, 111, 121, 128 Giant Cells, 111, 127 Gland, 84, 111, 117, 122, 125, 127, 129, 130 Glomerular, 7, 111, 112, 118 Glomerular Filtration Rate, 111, 118 Glomerular Mesangium, 7, 111 Glomeruli, 111, 112 Glomerulonephritis, 7, 112 Glomerulus, 111, 112 Gluconeogenesis, 110, 112 Glucose, 6, 9, 14, 39, 46, 52, 64, 65, 72, 97, 110, 112, 113, 115, 128 Glycine, 98, 112, 120, 128 Glycogen, 4, 112 Glycoprotein, 98, 111, 112 Glycosidic, 7, 112 Glycosylation, 7, 112 Gonads, 112, 114 Governing Board, 112, 124 H Habitual, 103, 112, 122 Haptens, 97, 112 Headache, 112, 113 Health Care Costs, 10, 112 Health Expenditures, 112 Heart failure, 112, 121 Heme, 101, 112, 124 Hemochromatosis, 72, 112 Hemoglobin, 32, 109, 112, 113, 124 Hemorrhage, 53, 106, 112, 113 Hemostasis, 113, 128 Hepatic, 32, 110, 113, 124 Hepatitis, 24, 71, 73, 113 Hepatocyte, 104, 113

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Hepatology, 61, 113 Hepatomegaly, 34, 93, 113 Hereditary, 4, 10, 14, 24, 32, 34, 72, 84, 98, 113, 122 Heredity, 111, 113 Heterogeneity, 6, 39, 97, 113 Heterozygote, 21, 113 Homologous, 9, 68, 98, 106, 113 Homozygotes, 16, 113 Hormone, 43, 109, 111, 113, 115, 130 Hybrid, 67, 113, 121 Hydrocephalus, 26, 113, 116 Hydrogen, 65, 97, 102, 107, 114, 117, 119, 121, 122, 125 Hydrophobic, 114, 117 Hydroxyproline, 98, 105, 114 Hyperbilirubinemia, 36, 114, 116 Hyperglycemia, 11, 114 Hypersensitivity, 4, 114 Hypertension, 108, 114, 116 Hyperuricemia, 24, 114 Hypoglycemia, 39, 110, 114 Hypogonadism, 21, 32, 33, 66, 114 Hypoplasia, 22, 114 Hypothalamus, 102, 114 Hypothyroidism, 26, 40, 47, 114 I Idiopathic, 114, 127 Immune response, 99, 112, 114, 130, 132 Immunogenic, 114, 117 Immunologic, 4, 103, 114 Immunology, 97, 114 Impairment, 5, 6, 7, 8, 66, 68, 100, 104, 114, 119 Imperforate Anus, 73, 114 In vitro, 26, 115 In vivo, 5, 10, 33, 34, 56, 115 Incompetence, 111, 115 Incontinence, 113, 115 Infancy, 21, 27, 115 Infantile, 115, 117 Infarction, 106, 114, 115, 119 Infection, 28, 103, 115, 117, 118, 120, 129, 132 Infiltration, 112, 115 Inflammation, 99, 104, 105, 107, 110, 111, 113, 115, 123, 125, 127, 131 Infusion, 115, 131 Ingestion, 66, 110, 115, 123 Initiation, 5, 115, 125, 131 Inositol, 23, 60, 115 Insight, 51, 115

Insulin, 43, 115 Insulin-dependent diabetes mellitus, 115 Intestines, 97, 100, 111, 115 Intracellular, 66, 115, 126 Intracranial Hemorrhages, 113, 116 Intracranial Hypertension, 112, 113, 116 Intracranial Pressure, 34, 116 Intrinsic, 97, 116 Ions, 9, 107, 114, 116 Irritable Bowel Syndrome, 73, 116 Isoflavones, 61, 116 J Jaundice, 66, 71, 93, 114, 116, 120 K Kb, 78, 116 Keratolytic, 107, 116 Keto, 5, 10, 116 Kidney Failure, 116, 118 Kinetic, 9, 35, 116 L Labile, 105, 116 Lactation, 21, 116 Large Intestine, 115, 116, 126, 128 Laxative, 116, 128 Lectin, 7, 116 Lens, 10, 11, 50, 61, 102, 110, 116 Lenticular, 15, 116 Lesion, 117 Lethal, 6, 8, 117 Lethargy, 66, 94, 113, 114, 117 Leucocyte, 98, 117, 118 Leukocytes, 45, 100, 102, 103, 109, 117, 119, 122 Lipid, 11, 100, 115, 116, 117, 122 Lipid A, 11, 117 Lipid Peroxidation, 117, 122 Lipodystrophy, 73, 117 Lipopolysaccharides, 117, 132 Lipoprotein, 49, 117 Liver cancer, 71, 117 Liver Transplantation, 71, 117 Localization, 7, 117 Localized, 5, 107, 115, 117, 121, 123 Low-density lipoprotein, 117 Lower Esophageal Sphincter, 111, 117 Lymph, 103, 104, 117, 118, 127 Lymph node, 103, 117, 118, 127 Lymphatic, 115, 117, 118, 121, 127, 129 Lymphatic system, 117, 118, 127, 129 Lymphoblasts, 37, 118 Lymphocyte, 99, 118 Lymphoid, 99, 117, 118

139

M Magnetic Resonance Imaging, 118 Magnetic Resonance Spectroscopy, 5, 34, 44, 52, 56, 118 Malignant, 102, 117, 118 Mannitol, 34, 37, 118 Maple Syrup Urine Disease, 4, 5, 47, 73, 118 Mass Screening, 14, 40, 44, 51, 118 Mediate, 6, 108, 118 Mediator, 118, 128 Medical Records, 118, 127 MEDLINE, 79, 118 Melanin, 118, 123, 131 Membrane, 10, 98, 103, 105, 109, 111, 118, 121, 123, 124, 126 Mental, iv, 4, 29, 66, 78, 80, 103, 104, 107, 114, 115, 118, 119, 125, 127 Mental Retardation, 29, 66, 119 Metabolic disorder, 4, 29, 45, 56, 68, 72, 119 Metabolite, 5, 119 MI, 71, 95, 119 Microbe, 119, 130 Micro-organism, 107, 119, 123 Milliliter, 102, 119 Modification, 98, 119 Molecular mass, 7, 119 Molecule, 99, 105, 107, 108, 112, 116, 119, 121, 123, 126 Monitor, 119, 120 Monocytes, 117, 119 Monophosphate, 66, 119 Morphology, 103, 119 Motility, 119, 128 Muscle, Smooth, Vascular, 111, 119 Musculature, 119, 125 Mutagenic, 9, 119 Myocardium, 119 N NCI, 1, 77, 104, 119 Necrosis, 115, 119, 120, 127 Neonatal, 20, 24, 30, 35, 39, 40, 47, 51, 56, 66, 68, 120 Neonatal Hepatitis, 24, 120 Neonatal period, 66, 120 Neonatal Screening, 30, 35, 66, 120 Nephropathy, 7, 120 Nerve, 61, 64, 65, 97, 100, 104, 118, 120, 122, 126, 127, 129 Nervous System, 103, 118, 120, 130 Neural, 64, 65, 120

Neuroleptic, 99, 104, 120 Neurologic, 6, 15, 18, 20, 40, 113, 120 Neuropathy, 64, 65, 98, 120 Neurotransmitter, 98, 108, 112, 120, 129 Neutrophil, 98, 120 Niacin, 9, 120, 131 Nitrogen, 119, 120, 131 Nuclear, 52, 100, 108, 120, 130 Nuclei, 108, 118, 120, 125, 127 Nucleic acid, 68, 111, 120, 121, 125, 126 Nucleus, 100, 104, 106, 107, 108, 109, 117, 119, 121, 125 O Occupational Therapy, 72, 121 Oedema, 64, 65, 121 Oligonucleotide Probes, 68, 121 Oliguria, 116, 118, 121 Opacity, 102, 107, 121 Ophthalmic, 42, 53, 121 Opsin, 121, 127 Oral Health, 3, 121 Osmolarity, 118, 121 Osmosis, 121 Osmotic, 11, 64, 65, 121 Outpatient, 8, 121 Ovary, 51, 112, 121, 124 Oxidation, 4, 8, 11, 97, 99, 117, 121, 122 Oxidative Stress, 10, 122 P Pancreas, 97, 113, 115, 122, 131 Pancreatic, 111, 122 Pancreatic Juice, 111, 122 Parotid, 122, 127 Pathogenesis, 35, 122 Pathologic, 29, 101, 102, 106, 114, 122, 126 Pathologist, 122 Pathophysiology, 25, 122 Patient Education, 84, 88, 90, 95, 122 Peptide, 98, 122, 124, 125, 130 Peritoneal, 100, 121, 122 Peritoneal Cavity, 100, 121, 122 Peroxidase, 11, 117, 122 Peroxide, 117, 122 Personality Development, 35, 122 PH, 16, 102, 122 Pharmacologic, 122, 130 Pharynx, 111, 122 Phenotype, 68, 111, 123 Phenyl, 66, 123 Phenylalanine, 123, 131 Phospholipids, 109, 115, 117, 123 Phosphorus, 102, 123

140

Galactosemia

Phosphorylates, 11, 123 Phosphorylation, 11, 123 Phosphotransferases, 9, 123 Physical Therapy, 72, 123 Physiologic, 101, 123, 126 Pigments, 101, 102, 123, 127 Plants, 110, 112, 116, 119, 123, 124, 127, 131 Plasma, 18, 43, 52, 56, 98, 99, 103, 104, 111, 113, 116, 123 Plasma cells, 99, 123 Pleural, 121, 123 Pleural cavity, 121, 123 Pneumonia, 106, 123 Point Mutation, 26, 123 Poisoning, 123, 128 Pollen, 124, 126 Polymorphism, 36, 39, 124 Polypeptide, 98, 105, 124 Polyposis, 73, 124 Polysaccharide, 99, 124 Porphyria, 73, 124 Porphyrins, 124 Practice Guidelines, 80, 124 Precursor, 108, 109, 123, 124, 131 Prenatal, 22, 43, 44, 49, 94, 108, 124 Prenatal Diagnosis, 22, 43, 49, 124 Prevalence, 4, 124 Primary Biliary Cirrhosis, 72, 124 Primary Sclerosing Cholangitis, 72, 124 Probe, 121, 124 Proctitis, 73, 125 Progression, 56, 99, 125 Progressive, 104, 120, 125 Promoter, 24, 30, 125 Promotor, 125, 126 Prophylaxis, 50, 125 Prostate, 125, 131 Protease, 98, 125 Protein C, 98, 100, 104, 117, 125, 131 Protein S, 101, 111, 125 Proteolytic, 98, 105, 125 Protons, 114, 118, 125, 126 Prune Belly Syndrome, 73, 125 Psychic, 118, 125 Public Policy, 79, 125 Publishing, 12, 73, 85, 125 Pulmonary, 98, 116, 125, 132 Pulse, 5, 119, 125 Purines, 125, 128 Pyramidal Tracts, 109, 126 Pyrimidines, 126, 128

Q Quercetin, 60, 126 R Radiation, 108, 110, 126, 133 Radioactive, 114, 120, 126 Radioisotope, 121, 126 Raffinose, 60, 126 Randomized, 108, 126 Receptor, 22, 99, 104, 108, 109, 126, 128 Receptors, Serotonin, 126, 128 Rectal, 52, 126 Rectum, 100, 105, 110, 115, 116, 125, 126 Reductase, 11, 64, 65, 97, 126 Refer, 1, 73, 105, 117, 120, 121, 126 Refraction, 126, 129 Regimen, 108, 126 Regurgitation, 111, 126 Resorption, 113, 126 Response Elements, 11, 126 Retina, 106, 116, 126, 127 Retinal, 56, 59, 127 Retinol, 127 Retinopathy, 59, 64, 65, 98, 127 Retrospective, 40, 56, 127 Retrospective study, 40, 56, 127 Rhodopsin, 121, 127 Risk factor, 46, 71, 127 Rods, 127 Rubella, 28, 127 Rutin, 126, 127 S Sarcoidosis, 73, 127 Schizophrenia, 19, 127 Secretion, 42, 114, 115, 116, 127 Secretory, 8, 127 Sepsis, 16, 47, 128 Septicemia, 22, 47, 66, 128 Serine, 9, 128, 131 Serotonin, 22, 61, 100, 104, 120, 126, 128, 131 Serum, 5, 8, 20, 34, 36, 48, 56, 66, 99, 105, 108, 117, 128 Side effect, 97, 100, 114, 128, 130 Skeletal, 18, 128 Skeleton, 128 Skull, 106, 116, 128 Small intestine, 104, 113, 115, 128, 131, 132 Smooth muscle, 99, 111, 128, 130 Soft tissue, 4, 102, 128 Solvent, 101, 121, 128 Soma, 128 Somatic, 23, 97, 128

141

Sorbitol, 11, 64, 65, 98, 118, 128 Sound wave, 106, 128 Spastic, 116, 128 Specialist, 86, 107, 129 Species, 109, 113, 129, 131, 132, 133 Specificity, 8, 9, 16, 35, 97, 129 Spectrometer, 8, 129 Spectroscopic, 9, 118, 129 Spectrum, 8, 13, 50, 129 Speech Disorders, 6, 66, 129 Speech pathologist, 72, 129 Spinal cord, 103, 104, 120, 126, 129 Spleen, 118, 127, 129 Sprue, 73, 129 Stabilization, 9, 129 Steatosis, 109, 129 Stimulus, 109, 129, 130 Stomach, 97, 109, 111, 113, 115, 117, 122, 128, 129 Stool, 105, 115, 116, 129 Stress, 10, 11, 116, 122, 129 Stupor, 117, 129 Subacute, 115, 129 Subclinical, 115, 129 Subcutaneous, 108, 117, 121, 129 Substance P, 119, 127, 129 Substrate, 7, 8, 64, 130 Suction, 110, 130 Support group, 72, 130 Systemic, 8, 109, 115, 116, 121, 127, 128, 130 T Telencephalon, 100, 103, 130 Testosterone, 126, 130 Thalamus, 102, 130 Threonine, 128, 130 Threshold, 10, 114, 130 Thyroid, 52, 114, 130, 131 Thyroid Gland, 130 Thyrotropin, 114, 130 Thyroxine, 36, 123, 130 Tomography, 102, 118, 130 Toxic, iv, 65, 66, 101, 120, 130 Toxicity, 23, 130 Toxicology, 80, 130 Toxins, 99, 108, 115, 128, 130 Trachea, 122, 130, 131 Transcription Factors, 126, 131 Transduction, 115, 131

Transfection, 101, 131 Transferases, 112, 131 Transfusion, 42, 131 Translation, 98, 131 Translocation, 11, 131 Transplantation, 32, 131 Trypsin, 98, 131 Tryptophan, 105, 128, 131 Tumor marker, 71, 131 Tyrosine, 9, 108, 131 U Ulcerative colitis, 124, 131 Uracil, 126, 131, 132 Urea, 4, 131 Urethra, 125, 131, 132 Uric, 114, 125, 131 Uridine Diphosphate, 22, 24, 26, 27, 31, 32, 37, 52, 132 Uridine Diphosphate Galactose, 24, 26, 27, 31, 32, 52, 132 Urinary, 6, 52, 113, 115, 121, 125, 131, 132 Urinary tract, 125, 132 Urine, 5, 14, 23, 24, 36, 48, 52, 66, 101, 107, 115, 118, 121, 131, 132 V Vascular, 62, 111, 115, 121, 130, 132 Vein, 120, 122, 132 Venous, 121, 125, 132 Ventricle, 114, 125, 130, 132 Ventricular, 114, 132 Veterinary Medicine, 79, 132 Villi, 113, 132 Virulence, 100, 130, 132 Virus, 103, 109, 111, 127, 131, 132 Viscera, 128, 132 Vitamin A, 115, 127, 132 Vitreous, 53, 116, 126, 132 Vitro, 132 Vivo, 5, 132 W White blood cell, 97, 99, 117, 118, 120, 123, 132 Windpipe, 122, 130, 132 X Xenograft, 99, 133 X-ray, 38, 102, 110, 120, 133 Y Yeasts, 110, 123, 133

142

Galactosemia

143

144

Galactosemia

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