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" Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism "
edited by Ursula Gresser.
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BL
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| Record Number
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715196
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b537349
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| Main Entry
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edited by Ursula Gresser.
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| Title & Author
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Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism\ edited by Ursula Gresser.
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| Publication Statement
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Berlin, Heidelberg: Springer Berlin Heidelberg, 1993
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| Page. NO
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(XIV, 182 pages 40 illustrations)
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| ISBN
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0387567747
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: 3540567747
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: 3642849628
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: 3642849644
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: 9780387567747
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: 9783540567745
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: 9783642849626
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: 9783642849640
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| Contents
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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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| Abstract
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Explores the genetic basis, clinical aspects and biochemical foundations of hypoxanthine phosphoribosyltransferase deficiency, hyperuricaemia and gout, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency.
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Medicine.
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Metabolism -- Disorders.
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Purine-Pyrimidine Metabolism, Inborn Errors -- metabolism.
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| Added Entry
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Ursula Gresser
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