Inborn Metabolic Diseases Diagnosis and Treatment
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly
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Inborn Metabolic Diseases Diagnosis and Treatment 6th Edition
Inborn Metabolic Diseases
Jean-Marie Saudubray Matthias R. Baumgartner John Walter (Eds.)
Inborn Metabolic Diseases Diagnosis and Treatment 6th edition With 81 figures
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Editors Jean-Marie Saudubray Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière Paris France Matthias R. Baumgartner Division of Metabolism University Children’s Hospital Zurich Switzerland John Walter Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine University of Manchester Central Manchester University Hospitals NHS Foundation Trust St Mary‘s Hospital Manchester UK
ISBN 978-3-662-49769-2 978-3-662-49771-5 (eBook) DOI 10.1007/978-3-662-49771-5 Library of Congress Control Number: 2016944613 Springer © Springer Berlin, Heidelberg 1990, 1995, 2000, 2006, 2012, 2016 This work is subject to copyright. All rights are reserved by the Publisher, 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 physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, 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. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Cover Design: deblik Berlin Cover illustration: © pio3, fotolia.com Illustrations: Fotosatz-Service Köhler GmbH – Reinhold Schöberl, Würzburg Printed on acid-free paper Springer is part of Springer Science+Business Media
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Preface to the 6th edition Inborn Metabolic Diseases: Diagnosis and Treatment, remains the standard textbook for professionals working in inherited metabolic medicine and biochemical genetics but it is also an essential resource for all specialities in this multidisciplinary field. The speciality of inherited metabolic disease is at the forefront of progress in medicine with new methods in metabolomics and genomics identifying the molecular basis for a growing number of conditions and syndromes that were previously unexplained. These powerful techniques allow us to link the clinical, biochemical and molecular characteristics of disorders and provide a basis for therapeutic interventions. For this new edition all 43 chapters have been revised or newly written by authors with particular expertise in their subject areas. Since the previous edition published in 2011, tw
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