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Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism
herausgegeben von Ursula GresserInhaltsverzeichnis
- 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.
- 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.