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Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria

  • Book
  • © 1990

Overview

Editors:
  1. R. A. Harkness

    1. Department of Clinical Biochemistry, Institute of Child Health, London, UK

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  2. R. J. Pollitt

    1. Sheffield, UK

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  3. G. M. Addison

    1. Manchester, UK

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Table of contents (26 chapters)

  1. Front Matter

    Pages N3-N3
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  2. Preface

    • R. A. Harkness
    Pages 393-394

  3. Mechanisms of Blood Glucose Homeostasis

    • H.-G. Hers
    Pages 395-410

  4. The Long-term Outcome of Patients with Glycogen Storage Diseases

    • G. P. A. Smit, J. Fernandes, J. V. Leonard, E. E. Matthews, S. W. Moses, M. Odievre et al.
    Pages 411-418

  5. Diagnosis of Glycogen Storage Disease

    • Y. S. Shin
    Pages 419-434

  6. Molecular Genetics of Phosphorylase Kinase: cDNA Cloning, Chromosomal Mapping and Isoform Structure

    • M. W. Kilimann
    Pages 435-441

  7. Phosphorylase b Kinase Deficiency in Man: a Review

    • I. E. T. van den Berg, R. Berger
    Pages 442-451

  8. Muscle Glycogenosis

    • S. W. Moses
    Pages 452-465

  9. Inherited Disorders of Carbohydrate Metabolism in Children Studied by 13C-Labelled Precursors, NMR and GC-MS

    • A. Lapidot
    Pages 466-475

  10. Galactose Disorders: an Overview

    • J. B. Holton
    Pages 476-486

  11. Regulation of Galactose Metabolism: Implications for Therapy

    • S. Segal, S. Rogers
    Pages 487-500

  12. The Mechanisms of Cataract Formation

    • C. Schmitt, O. Hockwin
    Pages 501-508

  13. Cataract and Metabolic Disease

    • W. Endres, Y. S. Shin
    Pages 509-516

  14. Plasma Polyol Levels in Patients with Cataract

    • C. Jakobs, A. C. Douwes, M. Brockstedt, F. Stellaard, W. Endres, Y. S. Shin
    Pages 517-522

  15. Disorders of Glycoprotein Degradation

    • M. Cantz, B. Ulrich-Bott
    Pages 523-537

  16. α- and β- Mannosidoses

    • A. Cooper, C. E. Hatton, M. Thornley, I. B. Sardharwalla
    Pages 538-548

  17. Schindler Disease: an Inherited Neuroaxonal Dystrophy due to α-N-Acetylgalactosaminidase Deficiency

    • R. J. Desnick, A. M. Wang
    Pages 549-559

  18. Advances in the Molecular Genetics of Metachromatic Leukodystrophy

    • V. Gieselmann, K. von Figura
    Pages 560-571

  19. Displacement Bone Marrow Transplantation for Some Inborn Errors

    • J. R. Hobbs
    Pages 572-596

  20. Clinical Application of Somatic Gene Therapy in Inborn Errors of Metabolism

    • F. D. Ledley
    Pages 597-616
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Keywords

About this book

394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments.

Editors and Affiliations

  • Department of Clinical Biochemistry, Institute of Child Health, London, UK

    R. A. Harkness

  • Sheffield, UK

    R. J. Pollitt

  • Manchester, UK

    G. M. Addison

Bibliographic Information

  • Book Title: Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria

  • Editors: R. A. Harkness, R. J. Pollitt, G. M. Addison

  • DOI: https://doi.org/10.1007/978-94-009-2175-7

  • Publisher: Springer Dordrecht

  • eBook Packages: Springer Book Archive

  • Copyright Information: Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1990

  • Softcover ISBN: 978-0-7923-8947-7Published: 31 January 1991

  • eBook ISBN: 978-94-009-2175-7Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: 288

  • Number of Illustrations: 6 b/w illustrations

  • Topics: Internal Medicine, Pediatrics, Medical Biochemistry, Human Genetics

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