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Inborn Metabolic Diseases

Diagnosis and Treatment

  • Book
  • © 2000

Overview

Editors:
  1. John Fernandes

    1. Hattem, The Netherlands

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  2. Jean-Marie Saudubray

    1. Hospital Necker-Enfants Malades, Paris Cedex 15, France

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  3. Georges Berghe

    1. Institute of Cellular Pathology, Université Catholique de Louvain, Brussels, Belgium

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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

  • Includes supplementary material: sn.pub/extras

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Table of contents (41 chapters)

  1. Front Matter

    Pages I-XII
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  2. Diagnosis and Treatment: General Principles

    1. Front Matter

      Pages 1-1
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    2. Clinical Approach to Inherited Metabolic Diseases

      • J. M. Saudubray, H. Ogier de Baulny, C. Charpentier
      Pages 3-41

    3. Diagnostic Procedures: Function Tests and Postmortem Protocol

      • J. Fernandes, J.-M. Saudubray, J. Huber
      Pages 43-51

    4. Emergency Treatments

      • H. Ogier de Baulny, J. M. Saudubray
      Pages 53-61

    5. Psychosocial Care of the Child and Family

      • J. C. Harris
      Pages 63-74

    6. Treatment: Present Status and New Trends

      • J. H. Walter, J. E. Wraith
      Pages 75-84

  3. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 85-85
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    2. The Glycogen-Storage Diseases

      • J. Fernandes, G. P. A. Smit
      Pages 86-101

    3. Disorders of Galactose Metabolism

      • R. Gitzelmann
      Pages 102-109

    4. Disorders of Fructose Metabolism

      • Georges Van den Berghe
      Pages 110-116

    5. Persistent Hyperinsulinemic Hypoglycemia

      • Pascale de Lonlay, Jean-Marie Saudubray
      Pages 118-123

  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter

      Pages 125-125
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    2. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

      • Douglas S. Kerr, Isaiah D. Wexler, Arthur B. Zinn
      Pages 126-138

    3. Disorders of Fatty Acid Oxidation

      • C. A. Stanley
      Pages 140-150

    4. Disorders of Ketogenesis and Ketolysis

      • A. A. M. Morris
      Pages 152-156

    5. Defects of the Respiratory Chain

      • Arnold Munnich
      Pages 158-168

  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter

      Pages 169-169
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    2. The Hyperphenylalaninaemias

      • Isabel Smith, Philip Lee
      Pages 170-184

    3. Disorders of Tyrosine Metabolism

      • Eli Anne Kvittingen, Elisabeth Holme
      Pages 186-194
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Keywords

About this book

Five years have passed since the second edition of With respect to the contents of the book, most chapters have been rewritten or extensively revised. A Inborn Metabolic Diseases; Diagnosis and Treatment was published. The third edition, now being presented, few chapters from the second edition have been deleted, since their contents are discussed in other has been thoroughly updated and revised. Again, the clinical presentation, the methods to arrive at the chapters of the present edition. A few new chapters diagnosis and the treatment of the patient have have been introduced, such as a general chapter on remained the focus of the book, that for a large part treatment, which gives a comprehensive list of present has been written by clinicians for clinicians. The scope treatments and new trends, a chapter on persistent of the readership has enlarged: from the original teams hyperinsulinemic hypoglycemia, a combined chapter of pediatricians, biochemists and dieticians it now also on disorders of ketogenesis and ketolysis, a chapter on disorders of proline and serine metabolism, a chapter encompasses neurologists, internists, geneticists and psychosocial workers. This reflects the fact that for on disorders of cholesterol synthesis, and a chapter on many inborn metabolic diseases the survival of the defective leukotriene synthesis. For more detailed patients and their quality of life have improved.

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

  • Hattem, The Netherlands

    John Fernandes

  • Hospital Necker-Enfants Malades, Paris Cedex 15, France

    Jean-Marie Saudubray

  • Institute of Cellular Pathology, Université Catholique de Louvain, Brussels, Belgium

    Georges Berghe

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

  • 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

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