عنوان

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

شابک

0387567747

شابک

3540567747

شابک

3642849628

شابک

3642849644

شابک

9780387567747

شابک

9783540567745

شابک

9783642849626

شابک

9783642849640

شماره

b537349

عنوان اصلي

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

نام عام مواد

[Book]

نام نخستين پديدآور

edited by Ursula Gresser.

محل نشرو پخش و غیره

Berlin, Heidelberg

نام ناشر، پخش کننده و غيره

Springer Berlin Heidelberg

تاریخ نشرو بخش و غیره

1993

نام خاص و کميت اثر

(XIV, 182 pages 40 illustrations)

متن يادداشت

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.

متن يادداشت

Explores the genetic basis, clinical aspects and biochemical foundations of hypoxanthine phosphoribosyltransferase deficiency, hyperuricaemia and gout, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency.

موضوع مستند نشده

Medicine.

موضوع مستند نشده

Metabolism -- Disorders.

موضوع مستند نشده

Purine-Pyrimidine Metabolism, Inborn Errors -- metabolism.

شماره رده

نشانه اثر

مستند نام اشخاص تاييد نشده

edited by Ursula Gresser.

مستند نام اشخاص تاييد نشده

Ursula Gresser

نام الکترونيکي

نوع ماده

[Book]

تكميل شده

Y