Overview
- Main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation
- Clinical approach is the starting point for each chapter
- Reference to diagnostic options
- Includes supplementary material: sn.pub/extras
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Keywords
Table of contents (41 chapters)
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Diagnosis and Treatment: General Principles
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Disorders of Carbohydrate Metabolism
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Disorders of Mitochondrial Energy Metabolism
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Disorders of Amino Acid Metabolism and Transport
Reviews
"[This title] is a pleasure to read...Written by clinicians for clinicians... It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles... this is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated." (NEW ENGLAND JOURNAL OF MEDICINE)
Editors and Affiliations
Bibliographic Information
Book Title: Inborn Metabolic Diseases
Book Subtitle: Diagnosis and Treatment
Editors: John Fernandes, Jean-Marie Saudubray, Georges Berghe
DOI: https://doi.org/10.1007/978-3-662-04285-4
Publisher: Springer Berlin, Heidelberg
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eBook Packages: Springer Book Archive
Copyright Information: Springer-Verlag Berlin Heidelberg 2000
eBook ISBN: 978-3-662-04285-4Published: 14 March 2013
Edition Number: 3
Number of Pages: XII, 467
Number of Illustrations: 57 b/w illustrations
Topics: Pediatrics, Neurology, Endocrinology, Human Genetics