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Inborn Metabolic Diseases

Diagnosis and Treatment

Editors: Fernandes, John, Saudubray, Jean-Marie, Berghe, Georges van den (Eds.)

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  • 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
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  • ISBN 978-3-662-04285-4
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About this book

The diagnosis and treatment of metabolic diseases represent the main issues of this clinical book. Each disease-related chapter starts with a figure which presents an outline of the metabolic pathway, the locations of its inborn defects, and a short explanation of its major functions. The position of the figure on the left hand page facilitates its consultation when reading the text further. A short clinical abstract on the title page of the chapter is followed by the headings clinical presentation, metabolic derangement, diagnostis (and diagnostic tests), treatment and prognosis, genetics (main abnormalities only) and references, in a fixed order. As to treatment, this involves emergency treatment, maintenance treatment and, if applicable, treatment in the adult.
Five chapters on general principles of diagnosis and treatment precede the chapters on specific disorders. The first is the most important chapter, since it is an introduction to the clinical approach to inborn metabolic disease (see Preface). The others deal with diagnostic, procedures, emergency treatment, psychosocial care, and, last but not least, the present status of treatments, with comprehensive lists, as well as new trends of treatment.

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)


Table of contents (41 chapters)

Table of contents (41 chapters)

Buy this book

eBook $74.99
price for USA in USD
  • ISBN 978-3-662-04285-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
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Bibliographic Information

Bibliographic Information
Book Title
Inborn Metabolic Diseases
Book Subtitle
Diagnosis and Treatment
Editors
  • John Fernandes
  • Jean-Marie Saudubray
  • Georges van den Berghe
Copyright
2000
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-04285-4
DOI
10.1007/978-3-662-04285-4
Edition Number
3
Number of Pages
XII, 467
Number of Illustrations
57 b/w illustrations
Topics