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2. Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity. Micheli V, Simmonds HA, Ricci C. Clin Sci (Lond); 1990 Feb; 78(2):239-45. PubMed ID: 2155755 [Abstract] [Full Text] [Related]
13. Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts. Zoref E, De Vries A, Sperling O. J Clin Invest; 1975 Nov; 56(5):1093-9. PubMed ID: 171280 [Abstract] [Full Text] [Related]
15. Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A. Am J Med Genet A; 2017 Oct; 173(10):2736-2742. PubMed ID: 28742244 [Abstract] [Full Text] [Related]
16. Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. Becker MA, Puig JG, Mateos FA, Jimenez ML, Kim M, Simmonds HA. Am J Med; 1988 Sep; 85(3):383-90. PubMed ID: 2843048 [Abstract] [Full Text] [Related]
18. Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme. Becker MA, Losman MJ, Rosenberg AL, Mehlman I, Levinson DJ, Holmes EW. Arthritis Rheum; 1986 Jul; 29(7):880-8. PubMed ID: 3017368 [Abstract] [Full Text] [Related]
19. Potent and specific inhibitors of mammalian phosphoribosylpyrophosphate (PRPP) synthetase. Willis RC, Nord LD, Fujitaki JM, Breen TS, Matsumoto SS. Adv Exp Med Biol; 1989 Jul; 253B():7-12. PubMed ID: 2558549 [No Abstract] [Full Text] [Related]
20. The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity. Takeuchi F, Hanaoka F, Yano E, Yamada M, Horiuchi Y, Akaoka I. Hum Genet; 1981 Jul; 58(3):322-30. PubMed ID: 6276287 [Abstract] [Full Text] [Related] Page: [Next] [New Search]