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Inborn Metabolic Diseases

Diagnosis and Treatment

  • John Fernandes
  • Jean-Marie Saudubray
  • Keiya Tada

Table of contents

  1. Front Matter
    Pages I-XXI
  2. Part I

    1. Front Matter
      Pages 1-1
    2. J.-M. Saudubray, H. Ogier
      Pages 3-25
  3. Diagnostic Procedures

    1. Front Matter
      Pages 27-27
    2. N. Kono, S. Tarui
      Pages 29-32
    3. R. Berger
      Pages 33-38
    4. D. M. Bier
      Pages 45-53
    5. D. J. Taylor
      Pages 55-65
  4. Disorders of Carbohydrate Metabolism

    1. Front Matter
      Pages 67-67
    2. J. Fernandes
      Pages 69-88
    3. N. Kono, S. Tarui
      Pages 89-94
    4. R. Gitzelmann
      Pages 95-105
    5. M. Odièvre
      Pages 107-112
    6. K. Baerlocher
      Pages 113-123
  5. Part IV

    1. Front Matter
      Pages 125-125
  6. Disorders of Aminoacids and Organic Acids

    1. Front Matter
      Pages 159-159
    2. F. Güttler, H. Lou
      Pages 161-174
    3. D. P. Brenton, M. E. Haseler
      Pages 175-182
    4. S. Halvorsen
      Pages 199-209
    5. C. Bachmann
      Pages 211-228
    6. V. E. Shih
      Pages 229-239
    7. M. Broyer
      Pages 253-261
    8. H. Ogier, C. Charpentier, J.-M. Saudubray
      Pages 271-299
    9. H. Przyrembel
      Pages 301-310
    10. K. Tada
      Pages 323-329
    11. A. Larsson
      Pages 331-336
  7. Part VI

    1. Front Matter
      Pages 345-345
    2. E. A. Stein, D. M. Black
      Pages 347-380
    3. C. A. Stanley
      Pages 395-410
    4. J.-M. Saudubray, N. Specola
      Pages 411-418
  8. Part VII

    1. Front Matter
      Pages 419-419
    2. H. S. A. Heymans, R. J. A. Wanders, R. B. H. Schutgens
      Pages 421-433
  9. Part VIII

    1. Front Matter
      Pages 435-435
    2. R. Rappaport
      Pages 437-451
  10. Part IX

    1. Front Matter
      Pages 453-453
    2. G. van den Berghe
      Pages 455-474
  11. Part X

    1. Front Matter
      Pages 475-475
    2. R. A. Galbraith
      Pages 477-489
  12. Metal Disorders

About this book

Introduction

The editors of Inborn Metabolic Diseases: Diagnosis and Treat­ ment are joined by coauthors from a world-class cadre to pro­ duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its gen­ eral and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the con­ sequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate in mutation(s) of major genes (causes of the diseases). This book ought to be the ideal companion to Metabolic Basis ()/Inherited Disease (6th edition, 1989) in which the molecular causes and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline.

Keywords

Aminosäuren Kohlenhydrate Lipidstoffwechsel Neurotransmitter Stoffwechselstörungen diagnosis genes genetics homeostasis inborn diseases metabolic diseases metabolism therapy

Editors and affiliations

  • John Fernandes
    • 1
  • Jean-Marie Saudubray
    • 2
  • Keiya Tada
    • 3
  1. 1.Department of PediatricsUniversity HospitalGroningenThe Netherlands
  2. 2.Clinique de Génétique MédicaleHôpital des Enfants MaladesParis CedexFrance
  3. 3.Department of PediatricsTohoku University, School of MedicineSendai 980Japan

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-02613-7
  • Copyright Information Springer-Verlag Berlin Heidelberg 1990
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Springer Book Archive
  • Print ISBN 978-3-662-02615-1
  • Online ISBN 978-3-662-02613-7
  • Buy this book on publisher's site
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