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

  • Ursula Gresser
Conference proceedings

Table of contents

  1. Front Matter
    Pages I-XIV
  2. Purine Salvage Enzymes

    1. Front Matter
      Pages 1-1
    2. Hypoxanthine Guanine Phosphoribosyltransferase (HGPRT) Deficiency

      1. R. W. E. Watts
        Pages 3-4
      2. I. Kamilli, U. Gresser
        Pages 5-11
      3. J. G. Puig, F. A. Mateos
        Pages 12-26
      4. F. A. Mateos, J. G. Puig
        Pages 27-32
      5. B. L. Davidson, B. J. Roessler
        Pages 33-40
    3. Adenine Phosphoribosyltransferase (APRT) Deficiency

      1. U. Gresser, B. S. Gathof
        Pages 41-47
      2. A. Sahota, J. Chen, P. J. Stambrook, J. A. Tischfield
        Pages 54-60
  3. Hyperuricemia and Gout Caused by a Defect in Renal Transport

    1. Front Matter
      Pages 61-61
    2. B. J. Roessler
      Pages 73-80
  4. Immunodeficiency Disease: Adenosine Deaminase (ADA) and Purine-Nucleoside Phosphorylase (PNP) Deficiencies

    1. Front Matter
      Pages 81-81
    2. B. S. Mitchell
      Pages 83-83
    3. W. Friedrich, W. Hartmann
      Pages 84-91
    4. M. S. Hershfield, F. X. Arredondo-vega, I. Santisteban, S. Chaffee
      Pages 104-111
  5. The Purine Nucleotide Cycle

    1. Front Matter
      Pages 113-113
    2. Myoadenylate (Muscle AMP) Deaminase Deficiency

      1. D. K. Mahnke-Zizelman, M. T. Bausch-Jurken, R. L. Sabina
        Pages 122-131
    3. Adenylosuccinate Lyase (ASase) Deficiency

      1. J. Jaeken, P. Casaer, P. De Cock, G. Van den Berghe
        Pages 140-143
      2. G. Van den Berghe, F. Van den Bergh, M. F. Vincent, J. Jaeken
        Pages 144-155
      3. R. L. Stone, J. Aimi, B. A. Barshop, J. Jaeken, G. Van den Berghe, H. Zalkin et al.
        Pages 156-162
  6. Pyrimidine Metabolism

    1. Front Matter
      Pages 163-163
    2. K. Ward, M. J. Henderson, H. A. Simmonds, J. A. Duley, P. M. Davies
      Pages 165-167

About these proceedings


ADA-Deficiency APRT-Deficiency Gicht Gout HGPRT-Deficiency Hyperuricemia Hyperurikämie adenosine biochemistry chemistry diseases genetics lead metabolism molecular genetics

Editors and affiliations

  • Ursula Gresser
    • 1
  1. 1.Medizinische PoliklinikUniversität MünchenMünchenGermany

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 1993
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Springer Book Archive
  • Print ISBN 978-3-642-84964-0
  • Online ISBN 978-3-642-84962-6
  • Buy this book on publisher's site