Congenital Disorders of Glycosylation
Congenital defects of glycosylation (CDG), formerly called carbohydrate deficient glycoprotein syndromes, are genetic diseases due to deficient glycosylation of glycoconjugates, particularly glycoproteins. The glycans on proteins are either N-linked or O-
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2nd Edition
N. Blau . M. Duran M. E. Blaskovics . K. M. Gibson (Eds.)
Physician's Guide to the Laboratory Diagnosis of Metabolic O·seases Second Edition Foreword by C. R. Scriver
With 100 Figures and 270 Tables
~ Springer
Nenad Blau Division of Clinica} Chemistry and Biochemistry University Children's Hospital Steinvviesstrasse 75 8032 Ziirich Svvi tzer land e-mail: [email protected]
Marinus Duran Academic Medical Center Dept. of Pediatrics and Clinica! Chemistry Meibergdreef 9 1105 AZ Amsterdam The Netherlands e-mail: [email protected]
Milan E. Blaskovics 3639 Amesbury Road Los Angeles, CA 90027 USA e-mail: [email protected]
K. Michael Gibson Biochemical Genetics Laboratory Dept. of Molecular and Med. Genetics Oregon Health & Science University 2525 SW 3rd Avenue, Suite 350 Portland, Oregon 97201, USA e-mail: [email protected]
ISBN 978-3-642-62709-5 ISBN 978-3-642-55878-8 (eBook) DOI 10.1007/978-3-642-55878-8 Title of the 1st Edition: N. Blau, M. Duran, M.E. Blaskovics Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases © 1996 Chapman & Hali Library of Congress Cataloging-in-Publication Data Physician's guide to the laboratory diagnosis of metabolic diseases/ [edited by] N. Blau .. [el al.].- 2nd ed. p.; cm. Includes bibliographical references and index. ISBN 978-3-642-62709·5 (hd.: alk.paper) 1. Metabolism - Disorders - Diagnosis - Handbooks, manuals, etc. 2. Metabolism, Inborn errors of- Diagnosis - Handbooks, manuals, etc. 3. Diagnosis, Laboratory- Handbooks, manuals, etc. !. Blau, N. (Nenad), 1946 [DNLM: 1. Metabolism, Inborn Errors - diagnosis. 2. Diagnosis, Differential. 3. Laboratory Techniques and Procedures. VVD 205 P578 2002] RB147.P476 2002 616.3'9075-dc21 2002021642 This work is subject to copyright. Ali rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. springeronline.com © Springer-Verlag Berlin Heidelberg 2003 Originally published by Springer-Verlag Berlin Heidelberg New York in 2003 Softcover reprint of the hardcover 2nd edition 2003
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