Skip to main content
SpringerLink
Log in
Book cover

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

  • Conference proceedings
  • © 1993

Overview

Editors:
  1. Ursula Gresser

    1. Medizinische Poliklinik, Universität München, München, Germany

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

This is a preview of subscription content, log in via an institution to check access.

Access this book

Log in via an institution
eBook USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Licence this eBook for your library

Institutional subscriptions

Table of contents (24 papers)

  1. Front Matter

    Pages I-XIV
    Download chapter PDF

  2. Purine Salvage Enzymes

    1. Front Matter

      Pages 1-1
      Download chapter PDF

    2. Hypoxanthine Guanine Phosphoribosyltransferase (HGPRT) Deficiency

      1. Introductory Remarks
        • R. W. E. Watts
        Pages 3-4
      2. The Clinical Aspects of HGPRT Deficiency
        • I. Kamilli, U. Gresser
        Pages 5-11
      3. The Biochemical Basis of HGPRT Deficiency
        • J. G. Puig, F. A. Mateos
        Pages 12-26
      4. Prenatal Diagnosis of Lesch-Nyhan Syndrome
        • F. A. Mateos, J. G. Puig
        Pages 27-32
      5. The Genetic Basis of HGPRT Deficiency
        • B. L. Davidson, B. J. Roessler
        Pages 33-40

    3. Adenine Phosphoribosyltransferase (APRT) Deficiency

      1. The Clinical Aspects of APRT Deficiency
        • U. Gresser, B. S. Gathof
        Pages 41-47
      2. The Biochemical Basis of APRT Deficiency
        • Y. S. Shin
        Pages 48-53
      3. The Genetic Basis of APRT Deficiency
        • 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
      Download chapter PDF

    2. The Clinical Aspects of Hyperuricemia and Gout

      • U. Gresser
      Pages 63-68

    3. The Biochemical Basis of Hyperuricemia and Gout

      • J. F. Henderson
      Pages 69-72

    4. The Genetic Basic of Hyperuricemia and Gout

      • B. J. Roessler
      Pages 73-80

  4. Immunodeficiency Disease: Adenosine Deaminase (ADA) and Purine-Nucleoside Phosphorylase (PNP) Deficiencies

    1. Front Matter

      Pages 81-81
      Download chapter PDF

    2. Introductory Remarks

      • B. S. Mitchell
      Pages 83-83

    3. The Clinical Aspects of ADA and PNP Deficiencies

      • W. Friedrich, W. Hartmann
      Pages 84-91

    4. The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies

      • W. Gutensohn
      Pages 92-103

    5. The Genetic and Metabolic Basis of ADA Deficiency

      • 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
      Download chapter PDF
Back to top

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

Publish with us

Policies and ethics

Back to top

Search

Navigation