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

Author: Ursula Gresser
Publisher: Berlin, Heidelberg : Springer Berlin Heidelberg, 1993.
Edition/Format:   eBook : Bibliographic data : EnglishView all editions and formats
Summary:
Inherited disorders of purine and pyrimidine metabolism in man lead to severe diseases. At the 2nd M}nchner Adventssymposium the state of the art as to the genetic basis, clinical aspects, and the biochemical basis has been given by leading experts in the fields concerning the following diseases: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficieny), adenine phosphoribosyltransferase deficiency  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Printed edition:
Material Type: Bibliographic data, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Ursula Gresser
ISBN: 9783642849626 3642849628 9783642849640 3642849644 3540567747 9783540567745 0387567747 9780387567747
OCLC Number: 840301646
Description: 1 online resource (XIV, 182 pages 40 illustrations)
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.
Responsibility: edited by Ursula Gresser.

Abstract:

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

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