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Inherited Disorders of Vitamins and Cofactors

Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984

  • Conference proceedings
  • © 1985

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Editors:
  1. G. M. Addison
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  2. K. Bartlett
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  3. R. A. Harkness
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  4. R. J. Pollitt
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Table of contents (49 papers)

  1. Front Matter

    Pages i-1
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  2. Physiological and Therapeutic Aspects

    1. Vitamins: An Evolutionary Perspective

      • C. R. Scriver
      Pages 2-7

    2. Normal Vitamin Requirements in Neonates and Infants

      • C. J. Bates
      Pages 8-12

    3. Intestinal Transport of Vitamins

      • R. C. Rose
      Pages 13-16

    4. Evaluation of Cofactor Responsiveness

      • J. V. Leonard, P. Daish
      Pages 17-19

  3. Biopterins

    1. Raine Memorial Lecture

      1. Hyperphenylalaninaemia Caused by Defects in Biopterin Metabolism
        • S. Kaufman
        Pages 20-27

    2. Biosynthesis of Tetrahydrobiopterin in Man

      • H.-Ch. Curtius, D. Heintel, S. Ghisla, Th. Kuster, W. Leimbacher, A. Niederwieser
      Pages 28-33

    3. Differential Diagnosis of Tetrahydrobiopterin Deficiency

      • A. Niederwieser, A. Ponzone, H.-Ch. Curtius
      Pages 34-38

    4. Clinical Role of Pteridine Therapy in Tetrahydrobiopterin Deficiency

      • I. Smith, K. Hyland, B. Kendall, R. Leeming
      Pages 39-45

  4. Biotin

    1. Enzyme Studies in Biotin-responsive Disorders

      • K. Bartlett, H. K. Ghneim, H.-J. Stirk, H. Wastell
      Pages 46-52

    2. Biotinidase Deficiency: A Novel Vitamin Recycling Defect

      • B. Wolf, R. E. Grier, J. R. Secor McVoy, G. S. Heard
      Pages 53-58

    3. Biotinidase Deficiency: Factors Responsible for the Increased Biotin Requirement

      • E. R. Baumgartner, T. Suormala, H. Wick, J. Bausch, J.-P. Bonjour
      Pages 59-64

  5. Riboflavin, thiamine, pyridoxine and vitamin E

    1. Riboflavin-responsive Defects of β-Oxidation

      • N. Gregersen
      Pages 65-69

    2. Thiamine-responsive Inborn Errors of Metabolism

      • M. Duran, S. K. Wadman
      Pages 70-75

    3. Recent Advances in the Mechanism of Pyridoxine-responsive Disorders

      • B. Fowler
      Pages 76-83

    4. Vitamin E and Muscle Diseases

      • M. J. Jackson, D. A. Jones, R. H. T. Edwards
      Pages 84-87

    5. The Role of Vitamin E in the Treatment of the Neurological Features of Abetalipoproteinaemia and Other Disorders of Fat Absorption

      • D. P. R. Muller, J. K. Lloyd, O. H. Wolff
      Pages 88-92

  6. Short Communications

    1. Preface to Short Communications

      • R. A. Harkness, R. J. Pollitt, G. M. Addison
      Pages 93-93

    2. Free communications

      • G. M. Addison, K. Bartlett, R. A. Harkness, R. J. Pollitt
      Pages 93-94

    3. Biopterin, Neopterin and Tyrosine Responses to Combined Oral Phenylalanine and Tetrahydrobiopterin Loading Tests in Two Normal Children and in a Girl with Partial Biopterin Deficiency

      • C. Lykkelund, H. C. Lou, V. Rasmussen, F. Güttler, A. Niederwieser
      Pages 95-96
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Keywords

Bibliographic Information

  • Book Title: Inherited Disorders of Vitamins and Cofactors

  • Book Subtitle: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984

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

  • DOI: https://doi.org/10.1007/978-94-011-8019-1

  • Publisher: Springer Dordrecht

  • eBook Packages: Springer Book Archive

  • Copyright Information: SSIEM and MTP Press Limited 1985

  • Softcover ISBN: 978-94-011-8021-4Published: 19 May 2012

  • eBook ISBN: 978-94-011-8019-1Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: IX, 154

  • Topics: Pediatrics, Medical Biochemistry, Internal Medicine

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