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Inborn Errors of Metabolism in Humans

Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980

  • Conference proceedings
  • © 1982

Overview

Editors:
  1. Forrester Cockburn

    1. University Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK

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  2. Richard Gitzelmann

    1. Division of Metabolism, University Paediatric Department, Kinderspital, Zurich, Switzerland

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    You can also search for this editor in PubMed   Google Scholar

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Table of contents (20 papers)

  1. Front Matter

    Pages i-xv
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  2. Pathogenic Mechanisms of Inborn Errors: Clinical Implications of Biochemical Diversity

    1. Front Matter

      Pages 1-1
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    2. Molecular aspects of genetic heterogeneity

      • H. Harris
      Pages 3-11

    3. Inborn errors of purine metabolism

      • W. L. Nyhan
      Pages 13-36

    4. Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia

      • L. E. Rosenberg
      Pages 37-52

    5. Homocystinuria: clinical and biochemical heterogeneity

      • N. A. J. Carson
      Pages 53-67

    6. Hereditary defects of steroid biosynthesis

      • A. Prader, M. Zachmann
      Pages 69-86

    7. Blood—brain barrier amino-acid transport: clinical implications

      • W. M. Pardridge
      Pages 87-99

  3. Treatment: New Aspects and Limits, Transplantation, Replacement Therapy, Genetic Engineering

    1. Front Matter

      Pages 101-101
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    2. Recent studies on the maturation of lysosomal enzymes

      • E. F. Neufeld
      Pages 103-110

    3. Enzyme substitution by fibroblast transplantation

      • M. F. Dean, H. Muir, P. F. Benson, L. R. Button
      Pages 111-129

    4. Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders

      • T. M. S. Chang
      Pages 131-138

    5. Prospects for enzyme replacement therapy in heritable metabolic disorders

      • R. O. Brady, J. A. Barranger, P. G. Pentchev, F. S. Furbish, A. E. Gal
      Pages 139-154

  4. Inborn Errors of Metabolism affecting Brain Development (Animal Models)

    1. Front Matter

      Pages 155-155
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    2. Inborn errors of metabolism affecting brain development — Introduction

      • N. Herschkowitz
      Pages 157-160

    3. Mutations in mice affecting brain development and their correlations with human diseases

      • N. Baumann, F. Lachapelle, J.-C. Turpin
      Pages 161-171

    4. Murine mutations affecting myelination: models to study myelin diseases in the human

      • J.-M. Matthieu
      Pages 173-192

    5. The effect of phenylalanine on myelin metabolism in adolescent rats

      • F. A. Hommes, A. G. Eller, E. H. Taylor
      Pages 193-199

    6. Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination

      • L. Bologa-Sandru, H.-P. Siegrist, A. Z’graggen, U. Wiesmann, N. Herschkowitz
      Pages 201-208

  5. Consequences of Inborn Errors of Metabolism for the Individual, the Family and Society

    1. Front Matter

      Pages 209-209
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Keywords

Editors and Affiliations

  • University Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK

    Forrester Cockburn

  • Division of Metabolism, University Paediatric Department, Kinderspital, Zurich, Switzerland

    Richard Gitzelmann

Bibliographic Information

  • Book Title: Inborn Errors of Metabolism in Humans

  • Book Subtitle: Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980

  • Editors: Forrester Cockburn, Richard Gitzelmann

  • DOI: https://doi.org/10.1007/978-94-009-7325-1

  • Publisher: Springer Dordrecht

  • eBook Packages: Springer Book Archive

  • Copyright Information: The Society for the Study of Inborn Errors of Metabolism 1982

  • Softcover ISBN: 978-94-009-7327-5Published: 14 October 2011

  • eBook ISBN: 978-94-009-7325-1Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: 296

  • Topics: Pediatrics, Internal Medicine

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