Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 31 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Electron transport chain inhibition increases cellular dependence on purine transport and salvage;Cell Metabolism;2024-07
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. Prenatal diagnosis based onHPRT1gene mutation in a Lesch–Nyhan family;Journal of Obstetrics and Gynaecology;2014-12-30
4. De la mutación al fenotipo; variabilidad clínica en la enfermedad de Lesch-Nyhan. El papel de la epigenética;Revista Clínica Española;2014-11
5. From genotype to phenotype: Clinical variability in Lesch-Nyhan disease. The role of epigenetics;Revista Clínica Española (English Edition);2014-11
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