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Inborn Errors Purine-Pyrimidine Metabolism
Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
Also Known As:
Purine-Pyrimidine Metabolism, Inborn Errors; Purine Pyrimidine Metabolism, Inborn Errors
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Disease Context: Research Results
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Inborn Genetic Diseases: 11939
Inborn Errors Metabolism: 1162
Inborn Errors Purine-Pyrimidine Metabolism
Gout: 7710
Lesch-Nyhan Syndrome: 724
Dihydropyrimidine Dehydrogenase Deficiency: 283
Purine Nucleoside Phosphorylase Deficiency: 159
Thiopurine S methyltranferase deficiency: 63
Adenylosuccinate lyase deficiency: 51
Type II Xanthinuria: 10
Phosphoribosylpyrophosphate Synthetase Superactivity: 6
Beta-Ureidopropionase Deficiency: 5
Methylmalonate Semialdehyde Dehydrogenase Deficiency: 3
Adenosine monophosphate deaminase deficiency: 2
Oroticaciduria 1: 1
Phosphoribosylpyrophosphate synthetase deficiency: 1
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
Orotic Aciduria II
Pseudouridinuria and Mental Defect
Nutritional and Metabolic Diseases: 15
Metabolic Diseases: 10142
Inborn Errors Metabolism: 1162
Inborn Errors Purine-Pyrimidine Metabolism
Gout: 7710
Lesch-Nyhan Syndrome: 724
Dihydropyrimidine Dehydrogenase Deficiency: 283
Purine Nucleoside Phosphorylase Deficiency: 159
Thiopurine S methyltranferase deficiency: 63
Adenylosuccinate lyase deficiency: 51
Type II Xanthinuria: 10
Phosphoribosylpyrophosphate Synthetase Superactivity: 6
Beta-Ureidopropionase Deficiency: 5
Methylmalonate Semialdehyde Dehydrogenase Deficiency: 3
Adenosine monophosphate deaminase deficiency: 2
Oroticaciduria 1: 1
Phosphoribosylpyrophosphate synthetase deficiency: 1
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
Orotic Aciduria II
Pseudouridinuria and Mental Defect