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8. Brain purines in a genetic mouse model of Lesch-Nyhan disease. Jinnah HA; Page T; Friedmann T J Neurochem; 1993 Jun; 60(6):2036-45. PubMed ID: 8492116 [TBL] [Abstract][Full Text] [Related]
9. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. Cohen A; Doyle D; Martin DW; Ammann AJ N Engl J Med; 1976 Dec; 295(26):1449-54. PubMed ID: 825775 [TBL] [Abstract][Full Text] [Related]
10. Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency. Fox IH; Kaminska J; Edwards NL; Gelfand E; Rich KC; Arnold WN Biochem Genet; 1980 Apr; 18(3-4):221-34. PubMed ID: 6160848 [TBL] [Abstract][Full Text] [Related]
11. Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Bakay B; Nissinen E; Sweetman L; Francke U; Nyhan WL Pediatr Res; 1979 Dec; 13(12):1365-70. PubMed ID: 523196 [TBL] [Abstract][Full Text] [Related]
13. Activities of amidophosphoribosyltransferase (EC2.4.2.14) and the purine phosphoribosyltransferases (EC2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development--their possible relationship to the neurological dysfunction in the Lesch-Nyhan syndrome. Allsop J; Watts RW J Neurol Sci; 1980 May; 46(2):221-32. PubMed ID: 6155447 [TBL] [Abstract][Full Text] [Related]
14. Kinetic mechanism of human hypoxanthine-guanine phosphoribosyltransferase: rapid phosphoribosyl transfer chemistry. Xu Y; Eads J; Sacchettini JC; Grubmeyer C Biochemistry; 1997 Mar; 36(12):3700-12. PubMed ID: 9132023 [TBL] [Abstract][Full Text] [Related]
15. Effects of inosine on purine synthesis in normal and HGPRT-deficient human fibroblasts. Becker MA Adv Exp Med Biol; 1977; 76A():370-5. PubMed ID: 857618 [TBL] [Abstract][Full Text] [Related]
16. Regulation of de novo purine biosynthesis in normal and 8-azaguanine-resistant Chinese hamster cells. Taylor MW; Tokito MK; Gupta KC; Pipkorn J Biochim Biophys Acta; 1978 Jan; 517(1):1-13. PubMed ID: 203317 [TBL] [Abstract][Full Text] [Related]
17. Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease. Dammer EB; Göttle M; Duong DM; Hanfelt J; Seyfried NT; Jinnah HA Mol Genet Metab; 2015 Apr; 114(4):570-579. PubMed ID: 25769394 [TBL] [Abstract][Full Text] [Related]
18. The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. Neychev VK; Mitev VI Med Hypotheses; 2004; 63(1):131-4. PubMed ID: 15193365 [TBL] [Abstract][Full Text] [Related]
19. Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man. Curto R; Voit EO; Cascante M Biochem J; 1998 Feb; 329 ( Pt 3)(Pt 3):477-87. PubMed ID: 9445373 [TBL] [Abstract][Full Text] [Related]
20. Variation in human HPRT and its relationship to neurologic and behavioral manifestations. Bakay B; Nissinen E; Sweetman L; Francke U; Nyhan WL Adv Exp Med Biol; 1980; 122A():317-25. PubMed ID: 7424650 [No Abstract] [Full Text] [Related] [Next] [New Search]