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Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

  • Conference proceedings
  • © 1993

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Editors:
  1. Ursula Gresser

    1. Medizinische Poliklinik, Universität München, München, Germany

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Table of contents (24 papers)

  1. The Purine Nucleotide Cycle

    1. Myoadenylate (Muscle AMP) Deaminase Deficiency

      1. Clinical Aspects and Biochemical Basis of AMP Deaminase Deficiency: A Clinician’s Point of View
        • N. Zöllner, D. R. Wagner, M. Gross
        Pages 115-121
      2. The AMP Deaminase Multigene Family in Rats and Humans
        • D. K. Mahnke-Zizelman, M. T. Bausch-Jurken, R. L. Sabina
        Pages 122-131
      3. The Genetic Basis of Myoadenylate Deaminase Deficiency in Man
        • M. Gross
        Pages 132-139

    2. Adenylosuccinate Lyase (ASase) Deficiency

      1. The Clinical Aspects of ASase Deficiency
        • J. Jaeken, P. Casaer, P. De Cock, G. Van den Berghe
        Pages 140-143
      2. The Biochemical Aspects of ASase Deficiency
        • G. Van den Berghe, F. Van den Bergh, M. F. Vincent, J. Jaeken
        Pages 144-155
      3. The Genetic Basis of ASase Deficiency
        • R. L. Stone, J. Aimi, B. A. Barshop, J. Jaeken, G. Van den Berghe, H. Zalkin et al.
        Pages 156-162

  2. Pyrimidine Metabolism

    1. Front Matter

      Pages 163-163
      Download chapter PDF

    2. Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation

      • K. Ward, M. J. Henderson, H. A. Simmonds, J. A. Duley, P. M. Davies
      Pages 165-167

    3. The Clinical Aspects of Inherited Defects in Pyrimidine Degradation

      • M. Tuchman
      Pages 168-175

    4. Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis

      • R. A. De Abreu
      Pages 176-182
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Keywords

Editors and Affiliations

  • Medizinische Poliklinik, Universität München, München, Germany

    Ursula Gresser

Bibliographic Information

  • Book Title: Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

  • Editors: Ursula Gresser

  • DOI: https://doi.org/10.1007/978-3-642-84962-6

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer Verlag, Berlin Heidelberg 1993

  • Softcover ISBN: 978-3-642-84964-0Published: 15 December 2011

  • eBook ISBN: 978-3-642-84962-6Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: XIV, 182

  • Topics: Molecular Medicine, Metabolic Diseases

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