عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
0387567747
3540567747
3642849628
3642849644
9780387567747
9783540567745
9783642849626
9783642849640
b537349
Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism
[Book]
edited by Ursula Gresser.
Berlin, Heidelberg
Springer Berlin Heidelberg
1993
(XIV, 182 pages 40 illustrations)
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.
Explores the genetic basis, clinical aspects and biochemical foundations of hypoxanthine phosphoribosyltransferase deficiency, hyperuricaemia and gout, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency.
Medicine.
Metabolism -- Disorders.
Purine-Pyrimidine Metabolism, Inborn Errors -- metabolism.
edited by Ursula Gresser.
Ursula Gresser
مطالعه متن کتاب [Book]
Y
