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Inborn Metabolic Diseases

Diagnosis and Treatment

  • John Fernandes
  • Jean-Marie Saudubray
  • Georges Van den Berghe
  • K. Tada
  • N. R. M. Buist

Table of contents

  1. Front Matter
    Pages I-XV
  2. Diagnosis and Treatment: General Principles

    1. Front Matter
      Pages 1-1
    2. J.-M. Saudubray, H. Ogier de Baulny, C. Charpentier
      Pages 3-39
    3. J. Fernandes, J.-M. Saudubray
      Pages 41-46
    4. H. Ogier de Baulny, J.-M. Saudubray
      Pages 47-55
  3. Carbohydrate Metabolism

    1. Front Matter
      Pages 69-69
    2. J. Fernandes, Y.-T. Chen
      Pages 71-85
    3. R. Gitzelmann
      Pages 87-93
    4. G. Van den Berghe
      Pages 95-99
    5. N. R. M. Buist
      Pages 101-106
  4. Mitochondrial Energy Metabolism

    1. Front Matter
      Pages 107-107
    2. A. Munnich
      Pages 121-131
    3. C. A. Stanley
      Pages 133-143
  5. Aminoacids

    1. Front Matter
      Pages 145-145
    2. I. Smith, D. P. Brenton
      Pages 147-160
    3. E. A. Kvittingen, P. T. Clayton, J. V. Leonard
      Pages 161-166
    4. J. V. Leonard
      Pages 167-176
    5. V. E. Shih
      Pages 183-190
    6. K. Tada
      Pages 191-194
  6. Peptide Metabolism

    1. Front Matter
      Pages 195-195
    2. A. Larsson
      Pages 197-200
    3. J. Jaeken
      Pages 201-203
  7. Organic Acids

    1. Front Matter
      Pages 205-205
    2. H. Ogier de Baulny, U. Wendel, J.-M. Saudubray
      Pages 207-221
    3. J.-M. Saudubray, N. Specola, C. Charpentier
      Pages 223-228
  8. Vitamin-Responsive Disorders

    1. Front Matter
      Pages 237-237
    2. R. Baumgartner, T. Suormala
      Pages 239-245
    3. D. S. Rosenblatt, M. I. Shevell
      Pages 247-258
  9. Lipids

    1. Front Matter
      Pages 259-259
    2. G. Assmann, A. von Eckardstein, P. Cullen
      Pages 261-285
  10. Nucleic Acids

    1. Front Matter
      Pages 287-287
    2. G. Van den Berghe, M. F. Vincent
      Pages 289-302
  11. Neurotransmitters

    1. Front Matter
      Pages 303-303
    2. J. Jaeken, C. Jakobs
      Pages 305-313
  12. Metals

    1. Front Matter
      Pages 315-315
    2. D. M. Danks
      Pages 317-324
  13. Porphyrins and Heme

    1. Front Matter
      Pages 331-331
    2. Y. Nordmann
      Pages 333-340
    3. P. T. Clayton
      Pages 341-347
    4. N. Yazigi, W. F. Balistreri
      Pages 349-357
  14. Membrane Transport

  15. Organelle Disorders: Lysosomes, Golgi and Pre-Golgi Systems, Peroxisomes

    1. Front Matter
      Pages 373-373
    2. P. G. Barth
      Pages 375-382

About this book

Introduction

The diagnosis of metabolic diseases is facilitated by this clinical book. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The figures illustrate the metabolic derangement in a uniform way, thus affording clarification and better understanding of the treatment. The metabolic derangement is discribed in great detail, together with essential aspects of the genetics involved. The topics covered range from general aspects such as the clinical approach to metabolic diseases, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family to specific dicussions of new modes of treatment, including liver transplantation, bone marrow transplantation, and somatic gene therapy.

Keywords

Aminosäuren Kohlenhydrate Lipidstoffwechsel Neurotransmitter Stoffwechselstörungen diagnosis inborn diseases metabolic disease metabolic diseases metabolic disorder metabolism therapy

Editors and affiliations

  • John Fernandes
    • 1
  • Jean-Marie Saudubray
    • 2
  • Georges Van den Berghe
    • 3
  • K. Tada
    • 4
  • N. R. M. Buist
    • 5
  1. 1.University Children’s HospitalGroningenThe Netherlands
  2. 2.Hospital Necker-Enfants MaladesParis CedexFrance
  3. 3.International Institute of Cellular and Molecular PathologyBrusselsBelgium
  4. 4.SendaiJapan
  5. 5.PortlandUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-03147-6
  • Copyright Information Springer-Verlag Berlin Heidelberg 1995
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Springer Book Archive
  • Print ISBN 978-3-662-03149-0
  • Online ISBN 978-3-662-03147-6
  • Buy this book on publisher's site
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