Inborn Metabolic Diseases Diagnosis and Treatment
The editors of Inborn Metabolic Diseases: Diagnosis and Treat ment are joined by coauthors from a world-class cadre to pro duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical
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Inborn Metabolic Diseases Diagnosis and Treatment
With a Foreword by C. R. Scriver With 59 Figures and 51 Tables
Springer-Verlag Berlin Heidelberg GmbH
JOHN FERNANDES, M.D.
KEIYA TADA, M.D.
Professor of Pediatrics Department of Pediatrics University Hospital Oostersingel 59 9713 EZ Groningen, The Netherlands
Professor of Pediatrics Department of Pediatrics Tohoku University School of Medicine 1-1 Seiryo-machi Japan, Sendai980
JEAN-MARIE SAUDUBRAY, M.D.
Professor of Pediatrics Clinique de Genetique Medicale Hopital des Enfants Malades 149, rue de Sevres 75743 Paris Cedex, France
ISBN 978-3-662-02615-1
Library of Congress Cataloging-in-Publication Data lnhorn metaholic diseases : diagnosis and treatment I [edited by] J. Fernandes. J.-M. Saudubray, K. Tada : with a foreword by C. R. Scriver. p. em. Includes bibliographical references. ISBN 978-3-662-02613-7 (eBook) ISBN 978-3-662-02615-1 DOI 10.1007/978-3-662-02613-7
1. Metabolism, Inborn errors of. I. Fernandes, J. (John), 1921- . II. Saudubray, J.-M. (Jean-Marie), 1937- Ill. Tada, K. (Keiya), 1930[DNLM: 1. Metabolism, Inborn Errors-diagnosis. 2. Metabolism, Inborn Errorstherapy. WD 205 156] RC627.8.1544 1990 616.3'9042-dc20 DNLM/DLC This work is subject to copyright. All 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 microfilms or in other ways, and storage in data banks. Duplication of this publication or parts thereof is only permitted under the provisions of the German Copyright Law of September 9, 1965, in its current version, and a copyright fee must always be paid. Violations fall under the prosecution act of the German Copyright Law.
© Springer-Verlag Berlin Heidelberg 1990 Originally published by Springer-Verlag Berlin Heidelberg New York in 1990 Softcover reprint of the hardcover 1st edition 1990 The use of general descriptive names, registered names, trademarks, etc. in the publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product Liability: The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature.
2127/3145-543210
Printed on acid-free paper
Foreword
The editors of Inborn Metabolic Diseases: Diagnosis and Treatment are joined by coauthors from a world-class cadre to produce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its general and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the consequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate
