Molecular genetics, biochemistry and clinical aspects of inherited disorders of purine and pyrimidine metabolism
著者
書誌事項
Molecular genetics, biochemistry and clinical aspects of inherited disorders of purine and pyrimidine metabolism
Springer, c1993
- : gw
- : us
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注記
Includes bibliographical references
内容説明・目次
内容説明
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).
目次
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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