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Journal of Inherited Metabolic Disease

  • Book
  • © 1991

Overview

Editors:
  1. R. A. Harkness

    1. 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 (21 chapters)

  1. Front Matter

    Pages I-406
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  2. The Role of the Liver in Metabolic Homeostasis: Implications for Inborn Errors of Metabolism

    • G. van den Berghe
    Pages 407-420

  3. Detoxification Pathways in the Liver

    • D. M. Grant
    Pages 421-430

  4. Hereditary Variation of Liver Enzymes involved with Detoxification and Neurodegenerative Disease

    • A. C. Williams, G. B. Steventon, S. Sturman, R. H. Waring
    Pages 431-435

  5. Interrelationships of Liver and Brain with Special Reference to Reye Syndrome

    • J. K. Brown, H. Imam
    Pages 436-458

  6. Fetal and Neonatal Bile Acid Synthesis and Metabolism — Clinical Implications

    • W. F. Balistreri
    Pages 459-477

  7. Inborn Errors of Bile Acid Metabolism

    • P. T. Clayton
    Pages 478-496

  8. α1-Antitrypsin Deficiency and Liver Disease: Clinical Presentation, Diagnosis and Treatment

    • M. Hussain, G. Mieli-Vergani, A. P. Mowat
    Pages 497-511

  9. α 1-Antitrypsin Deficiency and Liver Disease

    • P. Birrer, N. G. McElvaney, L. M. Chang-Stroman, R. G. Crystal
    Pages 512-525

  10. Clinical Presentation of Metabolic Liver Disease

    • M. Odievre
    Pages 526-530

  11. Investigation of Paediatric Liver Disease

    • D. Kelly, A. Green
    Pages 531-537

  12. The Role of Histochemical Investigations in Metabolic Disorders Affecting the Liver

    • B. D. Lake
    Pages 538-545

  13. Techniques for Studying Hepatic Metabolism in vivo

    • J. V. Leonard, G. N. Thompson
    Pages 546-553

  14. Tyrosinaemia Type I — an Update

    • E. A. Kvittingen
    Pages 554-562

  15. Investigation of the Molecular Basis of the Genetic Deficiency of UDP-Glucuronosyl-transferase in Crigler—Najjar Syndrome

    • K. J. Robertson, D. Clarke, L. Sutherland, R. Wooster, M. W. H. Coughtrie, B. Burchell
    Pages 563-579

  16. Niemann-Pick Disease Type C: An Update

    • M. T. Vanier, P. Pentchev, C. Rodriguez-Lafrasse, R. Rousson
    Pages 580-595

  17. Paediatric Liver Transplantation: Review of Current Experience

    • J. A. C. Buckels
    Pages 596-603

  18. Treatment of Inherited Metabolic Disorders by Liver Transplantation

    • M. Burdelski, B. Rodeck, K. Latta, K. Latta, J. Brodehl, B. Ringe et al.
    Pages 604-618

  19. The Place of Fetal Liver Transplantation in the Treatment of Inborn Errors of Metabolism

    • J.-L. Touraine
    Pages 619-626

  20. Screening and Economics

    • J. A. Stilwell
    Pages 627-632
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Keywords

About this book

The articles in Issue 4 of Journal of Inherited Metabolic Disease, Vol. 14 (1991) contain the main lectures presented at the 28th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 1990, which was dedicated to `The Liver and Inherited Metabolic Disease' with a half-day workshop on `Screening and Economics'.
The subjects covered include metabolic functions of the liver, bile acids, alpha-1-antitrypsin deficiency, tyrosinaemia type I, Crigler-Najjar disease type I and Niemann-Pick disease type C, providing updates on a wide range of metabolic disorders and illustrating the importance of the complementary contributions from professionals in different disciplines. Also covered in detail is the exciting potential of liver transplantation as treatment for several inborn errors of metabolism.
This state-of-the-art review will be of interest to clinicians and research workers alike.

Editors and Affiliations

  • London, UK

    R. A. Harkness

  • Sheffield, UK

    R. J. Pollitt

  • Manchester, UK

    G. M. Addison

Bibliographic Information

  • Book Title: Journal of Inherited Metabolic Disease

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

  • DOI: https://doi.org/10.1007/978-94-011-9749-6

  • Publisher: Springer Dordrecht

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer Science+Business Media Dordrecht 1991

  • Softcover ISBN: 978-0-7923-8982-8Published: 31 July 1992

  • eBook ISBN: 978-94-011-9749-6Published: 29 June 2013

  • Edition Number: 1

  • Number of Pages: 254

  • Topics: Internal Medicine, Pediatrics, Medical Biochemistry, Hepatology

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