Inborn Metabolic Diseases Diagnosis and Treatment
Being up to Date: Status Quo and Trends of TreatmentFor those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved t
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Jean-Marie Saudubray Georges van den Berghe John H. Walter (Editors)
Inborn Metabolic Diseases Diagnosis and Treatment
Fifth Edition With 87 Figures
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Jean Marie Saudubray
John H. Walter
Department of Neurology Neurometabolic Unit Hôpital Pitié Salpêtrière 47-83 Boulevard de l’Hôpital, 75651 Paris Cedex 13, France
Biochemical Genetics Unit Manchester Academic Health Science Centre Central Manchester University Hospitals St Mary’s Hospital Oxford Road Manchester M13 9WL, UK
Georges van den Berghe Laboratory of Physiological Chemistry de Duve Institute University of Louvain Medical School Avenue Hippocrate 75/39 1200 Brussels, Belgium
ISBN-13 978-3-642-15719-6 Springer-Verlag Berlin Heidelberg New York Library of Congress Control Number: 2011938284 Bibliographic information Deutsche Bibliothek The Deutsche Bibliothek lists this publication in Deutsche Nationalbibliographie; detailed bibliographic data is available in the internet at . 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 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 to prosecution under the German Copyright Law. Springer Medizin Springer-Verlag GmbH Ein Unternehmen von Springer Science+Business Media springer.de © Springer- Verlag Berlin Heidelberg 2000, 2006, 2012 Printed in Germany The use of general descriptive names, registered names, trademarks, etc. in this publications 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 publishers cannot guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature.
Editor: Dr. Christine Lerche, Heidelberg Project Manager: Claudia Bauer, Heidelberg Copyediting: Janet Dodsworth, Chesterfield, UK Typesetting: TypoStudio Tobias Schaedla, Heidelberg Printing and Binding: Stürtz GmbH, Würzburg Cover Design and Layout: deblik Berlin SPIN: 80012340 Printed on acid free paper:
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Preface to the 5th edition Inborn Metabolic Diseases: Diagnosis and Treatment has for many years been considered a classic textbook, indispensable to those involved in the care of patients with inborn errors of metabolism, including paediatricians, clinical biochemists, neurologists, specialists in internal medicine, geneticists, dietitians, nurses and clinical psychologists. The 4th edition was published five years ago and sadly, since then, in 2009, John Fernandes, the early spiritual fat
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