Molecular genetics, biochemistry and clinical aspects of inherited disorders of purine and pyrimidine metabolism
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Bibliographic Information
Molecular genetics, biochemistry and clinical aspects of inherited disorders of purine and pyrimidine metabolism
Springer, c1993
- : gw
- : us
Available at 2 libraries
  Aomori
  Iwate
  Miyagi
  Akita
  Yamagata
  Fukushima
  Ibaraki
  Tochigi
  Gunma
  Saitama
  Chiba
  Tokyo
  Kanagawa
  Niigata
  Toyama
  Ishikawa
  Fukui
  Yamanashi
  Nagano
  Gifu
  Shizuoka
  Aichi
  Mie
  Shiga
  Kyoto
  Osaka
  Hyogo
  Nara
  Wakayama
  Tottori
  Shimane
  Okayama
  Hiroshima
  Yamaguchi
  Tokushima
  Kagawa
  Ehime
  Kochi
  Fukuoka
  Saga
  Nagasaki
  Kumamoto
  Oita
  Miyazaki
  Kagoshima
  Okinawa
  Korea
  China
  Thailand
  United Kingdom
  Germany
  Switzerland
  France
  Belgium
  Netherlands
  Sweden
  Norway
  United States of America
Note
Includes bibliographical references
Description and Table of Contents
Description
Inherited disorders of purine and pyrimidine metabolism in man lead to severe diseases. At the 2nd Muenchner Adventssymposium, the genetic basis, clinical aspects and the biochemical basis of the following diseases was discussed: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficiency), adenine phosphoribosyltransferase deficiency (APRT-deficiency), hyperuricemia and gout, adenosine deaminase deficiency (ADA-deficiency, and purine nucleoside phosphorylase deficiency (PNP-deficiency).
Table of Contents
I Purine Salvage Enzymes.- IA Hypoxanthine Guanine Phosphoribosyltransferase (HGPRT) Deficiency 3.- 1 Introductory Remarks.- 2 The Clinical Aspects of HGPRT Deficiency.- 3 The Biochemical Basis of HGPRT Deficiency.- 4 Prenatal Diagnosis of Lesch-Nyhan Syndrome.- 5 The Genetic Basis of HGPRT Deficiency.- IB Adenine Phosphoribosyltransferase (APRT) Deficiency 41.- 1 The Clinical Aspects of APRT Deficiency.- 2 The Biochemical Basis of APRT Deficiency.- 3 The Genetic Basis of APRT Deficiency.- II Hyperuricemia and Gout Caused by a Defect in Renal Transport.- 1 The Clinical Aspects of Hyperuricemia and Gout.- 2 The Biochemical Basis of Hyperuricemia and Gout.- 3 The Genetic Basis of Hyperuricemia and Gout.- III Immunodeficiency Disease: Adenosine Deaminase (ADA) and Purine-Nucleoside Phosphorylase (PNP) Deficiencies.- 1 Introductory Remarks.- 2 The Clinical Aspects of ADA and PNP Deficiencies.- 3 The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies.- 4 The Genetic and Metabolic Basis of ADA Deficiency.- IV The Purine Nucleotide Cycle.- IVA Myoadenylate (Muscle AMP) Deaminase Deficiency 115.- 1 Clinical Aspects and Biochemical Basis of AMP Deaminase Deficiency: A Clinician's Point of View.- 2 The AMP Deaminase Multigene Family in Rats and Humans.- 3 The Genetic Basis of Myoadenylate Deaminase Deficiency in Man.- IVB Adenylosuccinate Lyase (ASase) Deficiency 140.- 1 The Clinical Aspects of ASase Deficiency.- 2 The Biochemical Aspects of ASase Deficiency.- 3 The Genetic Basis of ASase Deficiency.- V Pyrimidine Metabolism.- 1 Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation.- 2 The Clinical Aspects of Inherited Defects in Pyrimidine Degradation.- 3 Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis.
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