Inborn Metabolic Diseases
Diagnosis and Treatment
Editors: Fernandes, J., Saudubray, J.-M., Berghe, G. van d., Walter, J.H. (Eds.)
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- About this book
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Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute presentation in late infancy and beyond; chronic and progressive disease; and specific organ involvement. In addition a list of important symptoms or signs can be found at the end of the chapter which then refers either to the text, a table, a figure, an algorithm, a list of disorders, or a combination of these.
- Reviews
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"[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)
- Table of contents (43 chapters)
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A Clinical Approach to Inherited Metabolic Diseases
Pages 3-48
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Newborn Screening for Inborn Errors of Metabolism
Pages 49-57
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Diagnostic Procedures: Function Tests and Postmortem Protocol
Pages 59-69
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Emergency Treatments
Pages 71-79
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Treatment: Present Status and New Trends
Pages 81-97
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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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- John Fernandes
- Jean-Marie Saudubray
- Georges van den Berghe
- John H. Walter
- Copyright
- 2006
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- Springer-Verlag Berlin Heidelberg
- eBook ISBN
- 978-3-540-28785-8
- DOI
- 10.1007/978-3-540-28785-8
- Edition Number
- 4
- Number of Pages
- XXII, 561
- Number of Illustrations
- 65 b/w illustrations
- Topics
