Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference22 articles.
1. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis;Seegmiller;Science,1967
2. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout;Kelley;Ann Intern Med,1969
3. The spectrum of hypoxanthine-guanine phosphoribosultransferase deficiency;Emmerson;Q J Med,1973
4. X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency: Heterozygote has two clonal populations;Migeon;Science,1968
5. Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: Intermediate enzyme deficiency in heterozygote red cells;Emmerson;Ann Intern Med,1972
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1. HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout;CEN Case Reports;2020-03-03
2. Hydrophilic-interaction liquid chromatography–tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine–guanine phosphoribosyltransferase deficiency;Journal of Chromatography B;2015-01
3. Purine Biochemistry;Gout;2012-08-22
4. Synthesis of Phosphoribosylpyrophosphate in Mammalian Cells;Advances in Enzymology - and Related Areas of Molecular Biology;2006-11-22
5. The Biochemical Basis of HGPRT Deficiency;Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism;1993
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