|
" Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism "
edited by Ursula Gresser.
| Document Type
|
:
|
BL
|
| Record Number
|
:
|
717662
|
| Doc. No
|
:
|
b537349
|
| Main Entry
|
:
|
edited by Ursula Gresser.
|
| Title & Author
|
:
|
Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism\ edited by Ursula Gresser.
|
| Publication Statement
|
:
|
Berlin, Heidelberg: Springer Berlin Heidelberg, 1993
|
| Page. NO
|
:
|
(XIV, 182 pages 40 illustrations)
|
| ISBN
|
:
|
0387567747
|
|
|
:
|
: 3540567747
|
|
|
:
|
: 3642849628
|
|
|
:
|
: 3642849644
|
|
|
:
|
: 9780387567747
|
|
|
:
|
: 9783540567745
|
|
|
:
|
: 9783642849626
|
|
|
:
|
: 9783642849640
|
| 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.
|
| Abstract
|
:
|
Explores the genetic basis, clinical aspects and biochemical foundations of hypoxanthine phosphoribosyltransferase deficiency, hyperuricaemia and gout, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency.
|
| Subject
|
:
|
Medicine.
|
| Subject
|
:
|
Metabolism -- Disorders.
|
| Subject
|
:
|
Purine-Pyrimidine Metabolism, Inborn Errors -- metabolism.
|
| LC Classification
|
:
|
QH506.E358 1993
|
| Added Entry
|
:
|
Ursula Gresser
|
| |