Skip to main content
SpringerLink
Log in
Book cover
  • Book
  • © 1990

Inborn Metabolic Diseases

Diagnosis and Treatment

Editors:

  1. John Fernandes

    1. Department of Pediatrics, University Hospital, Groningen, The Netherlands

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  2. Jean-Marie Saudubray

    1. Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris Cedex, France

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  3. Keiya Tada

    1. Department of Pediatrics, Tohoku University, School of Medicine, Sendai 980, Japan

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

Sections

Buy it now

eBook USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Other ways to access

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (55 chapters)

  1. Front Matter

    Pages I-XXI
    PDF

  2. Part I

    1. Front Matter

      Pages 1-1
      PDF

    2. Clinical Approach to Inherited Metabolic Disorders

      • J.-M. Saudubray, H. Ogier
      Pages 3-25

  3. Diagnostic Procedures

    1. Front Matter

      Pages 27-27
      PDF

    2. The Exercise Test

      • N. Kono, S. Tarui
      Pages 29-32

    3. Substrate Detection

      • R. Berger
      Pages 33-38

    5. Mass Spectrometry and Stable Isotopes

      • D. M. Bier
      Pages 45-53

    6. Magnetic Resonance Spectroscopy

      • D. J. Taylor
      Pages 55-65

  4. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 67-67
      PDF

    2. The Glycogen Storage Diseases

      • J. Fernandes
      Pages 69-88

    3. Muscle Glycogenoses

      • N. Kono, S. Tarui
      Pages 89-94

    4. Disorders of Galactose Metabolism

      • R. Gitzelmann
      Pages 95-105

    5. Disorders of Fructose Metabolism

      • M. Odièvre
      Pages 107-112

    6. Disorders of Gluconeogenesis

      • K. Baerlocher
      Pages 113-123

  5. Part IV

    1. Front Matter

      Pages 125-125
      PDF

  6. Disorders of Aminoacids and Organic Acids

    1. Front Matter

      Pages 159-159
      PDF

    2. Phenylketonuria and Hyperphenylalaninemia

      • F. Güttler, H. Lou
      Pages 161-174

    3. Maternal Phenylketonuria

      • D. P. Brenton, M. E. Haseler
      Pages 175-182
Back to top

About this book

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.
Back to top

Keywords

Back to top

Editors and Affiliations

  • Department of Pediatrics, University Hospital, Groningen, The Netherlands

    John Fernandes

  • Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris Cedex, France

    Jean-Marie Saudubray

  • Department of Pediatrics, Tohoku University, School of Medicine, Sendai 980, Japan

    Keiya Tada

Back to top

Bibliographic Information

  • Book Title: Inborn Metabolic Diseases

  • Book Subtitle: Diagnosis and Treatment

  • Editors: John Fernandes, Jean-Marie Saudubray, Keiya Tada

  • DOI: https://doi.org/10.1007/978-3-662-02613-7

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer-Verlag Berlin Heidelberg 1990

  • eBook ISBN: 978-3-662-02613-7Published: 17 April 2013

  • Edition Number: 1

  • Number of Pages: XXI, 730

  • Topics: Metabolic Diseases, Human Genetics, Pediatrics, Endocrinology, Biochemistry, general

Back to top

Publish with us

Policies and ethics

Back to top
Access via your institution

Buy it now

eBook USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Other ways to access

Search

Navigation