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

Gresser, Ursula (EDT); Abreu, R. A. De (CON); Aimi, J. (CON); Arredondo-vega, F. X. (CON); Barshop, B. A. (CON)

ISBN 10: 3642849644 / ISBN 13: 9783642849640

Editore: Springer, 2011

Codice articolo 19197814-n

Riassunto:

Inherited disorders of purine and pyrimidine metabolism inman lead to severe diseases. At the 2nd M}nchnerAdventssymposium the state of the art as to the geneticbasis, clinical aspects, and the biochemical basis has beengiven by leading experts in the fields concerning thefollowing diseases: Hypoxanthine phosphoribosyltransferasedeficiency (HGPRT-deficieny), adeninephosphoribosyltransferase deficiency (APRT-deficiency),hyperuricemia and gout, adenosine deaminase deficiency(ADA-deficiency, purine nucleoside phosphorylase deficiency(PNP-deficiency). All contributions of the symposium arepublished within this volume thus giving and overview ofthis most interesting field.

Contenuti: 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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Titolo: Molecular Genetics, Biochemistry and ...
Casa editrice: Springer
Data di pubblicazione: 2011
Legatura: Brossura
Condizione: New