Editors:
Being up to date: Status Quo and Trends of Treatment
Standard textbook in this interdisciplinary field
Extensively revised and updated
Including errors affecting adults
Includes supplementary material: sn.pub/extras
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Table of contents (43 chapters)
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Front Matter
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Diagnosis and Treatment: General Principles
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Front Matter
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Disorders of Mitochondrial Energy Metabolism
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Front Matter
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About this book
Being up to Date: Status Quo and Trends of Treatment
For 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 to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.
What´s new
- Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations
- Numerous updates on diagnostic procedures and treatment
- Newly discovered disorders.
As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.
Reviews
From the reviews of the fifth edition:
“The authors did an impressive job making sure the book was up to date, including discussions of therapies that are still in their experimental stages. … Inborn Metabolic Diseases is an excellent clinical guide and reference to this complex subject. It will be highly valuable to anyone who cares for patients with metabolic diseases, or for whom such diseases are regularly in the differential diagnosis.” (Daniel Kenney, Neurology, April, 2013)
“This clearly written update on a highly complex group of inherited metabolic disorders describes childhood-onset and adult-onset inherited conditions. … the book is most useful for pediatric subspecialists (e.g., clinical geneticists, neurologists), although it covers adult-onset metabolic diseases as well. … This is an outstanding book about the complex and mostly newly described field of clinical biochemical genetics. This fifth edition offers the most current overview of a rapidly evolving specialty which has relevance to all areas of medical practice.” (Hans Christoph Andersson, Doody’s Book Reviews, October, 2012)Editors and Affiliations
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Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris, France
Jean-Marie Saudubray
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Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Brussels, Belgium
Georges Berghe
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Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Manchester, UK
John H. Walter
About the editors
Professor Jean-Marie Saudubray, M.D., Director of the Metabolic/Diabetes Unit, Dep. of Pediatrics, Hopital Necker Enfants Malades, Paris, France
Professor Georges van den Berghe, Professor, Metabolic Research Group, University of Louvain Medical School, Brussels, Belgium
Dr. John H. Walter, Willink Biochemical Genetics Unit, Royal Manchester Children´s Hospital, Manchester, Great Britain
Bibliographic Information
Book Title: Inborn Metabolic Diseases
Book Subtitle: Diagnosis and Treatment
Editors: Jean-Marie Saudubray, Georges Berghe, John H. Walter
DOI: https://doi.org/10.1007/978-3-642-15720-2
Publisher: Springer Berlin, Heidelberg
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer-Verlag Berlin Heidelberg 2012
eBook ISBN: 978-3-642-15720-2Published: 16 November 2011
Edition Number: 5
Number of Pages: XXVIII, 660
Topics: Pediatrics, Human Genetics, Endocrinology, Neurology