Inborn Metabolic Diseases
Diagnosis and Treatment
Editors: Saudubray, Jean-Marie, Berghe, Georges van den, Walter, John H. (Eds.)
Free Preview- Being up to date: Status Quo and Trends of Treatment
- Standard textbook in this interdisciplinary field
- Extensively revised and updated
- Including errors affecting adults
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- About this book
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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.
- About the authors
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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
- Reviews
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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)
- Table of contents (43 chapters)
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Clinical Approach to Inborn Errors of Metabolism in Paediatrics
Pages 3-54
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Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations
Pages 55-74
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Newborn Screening for Inborn Errors of Metabolism
Pages 75-86
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Diagnostic Procedures: Functional Tests and Post-mortem Protocol
Pages 87-102
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Emergency Treatments
Pages 103-111
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Table of contents (43 chapters)
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Bibliographic Information
- Bibliographic Information
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- Book Title
- Inborn Metabolic Diseases
- Book Subtitle
- Diagnosis and Treatment
- Editors
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- Jean-Marie Saudubray
- Georges van den Berghe
- John H. Walter
- Copyright
- 2012
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- Springer-Verlag Berlin Heidelberg
- eBook ISBN
- 978-3-642-15720-2
- DOI
- 10.1007/978-3-642-15720-2
- Edition Number
- 5
- Number of Pages
- XXVIII, 660
- Topics
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