Inherited Metabolic Diseases A Clinical Approach
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reade
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Georg F. Hoffmann Johannes Zschocke William L. Nyhan (Eds.)
Inherited Metabolic Diseases A Clinical Approach
Prof. Dr. Georg F. Hoffmann Ruprecht-Karls-University University Children's Hospital Im Neuenheimer Feld 430 69120 Heidelberg Germany [email protected]
William L. Nyhan, MD, PhD, Professor University of California, San Diego School of Medicine Department of Pediatrics 9500 Gilman Drive La Jolla, CA 92093 USA [email protected]
Johannes Zschocke, Dr.med.habil., PhD, Professor of Human Genetics Divisions of Human Genetics and Clinical Genetics Medical University Innsbruck Schöpfstr. 41 6020 Innsbruck Austria [email protected]
ISBN: 978-3-540-74722-2
e-ISBN: 978-3-540-74723-9
DOI: 10.1007/978-3-540-74723-9 Springer Heidelberg Dordrecht London New York Library of Congress Control Number: 2009931335 © Springer-Verlag Berlin Heidelberg 2010 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 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. Violations are liable to prosecution under the German Copyright Law. The use of general descriptive names, registered names, trademarks, etc. in this 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 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. Cover design: eStudio Calamar, Figueres/Berlin Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
Dedication
To our patients and their families
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Preface
The field of inherited metabolic diseases has changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening but increasingly treatable illness. Unchanged is the orphan nature of these disorders with mostly relatively nonspecific initial clinical manifestations. The patient does not come to the physician with the diagnosis; the patient comes with a history, symptoms, and signs. This book starts with those and proceeds logically through algorithms from questions to answers. Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. To utilize as broad an experience as possible, its concept has been extended from a pocket-size book written jointly by five colleagues to a textboo
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