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Journal Abstract Search

323 related items for PubMed ID: 5256231

  • 1. Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency).
    Felix JS, DeMars R.
    Proc Natl Acad Sci U S A; 1969 Feb; 62(2):536-43. PubMed ID: 5256231
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  • 4. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
    Edwards NL, Recker D, Fox IH.
    J Clin Invest; 1979 May; 63(5):922-30. PubMed ID: 447834
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  • 5. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
    Migeon BR, Der Kaloustian VM, Nyhan WL, Yough WJ, Childs B.
    Science; 1968 Apr 26; 160(3826):425-7. PubMed ID: 4868511
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  • 7. Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
    Kelley WN.
    Fed Proc; 1968 Apr 26; 27(4):1047-52. PubMed ID: 5658470
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  • 8. Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Bunn DN, Moss IK, Nicholls A, Scott JT, Snaith ML, Watson MR.
    Ann Rheum Dis; 1975 Jun 26; 34(3):249-55. PubMed ID: 1155984
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  • 11. Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.
    McDonald JA, Kelley WN.
    Science; 1971 Feb 19; 171(3972):689-91. PubMed ID: 4322125
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  • 15. Lesch-Nyhan syndrome: the synthesis of inosine 5'-phosphate in the hypoxanthine-guanine phosphoribosyltransferase-deficient erythrocyte by alternate biochemical pathways.
    Lowy BA, Williams MK.
    Pediatr Res; 1977 May 19; 11(5):691-4. PubMed ID: 870876
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  • 16. Biochemically marked lymphocytoid lines: establishment of Lesch-Nyhan cells.
    Choi KW, Bloom AD.
    Science; 1970 Oct 02; 170(3953):89-90. PubMed ID: 5452899
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  • 17. Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome.
    Henderson JF.
    Fed Proc; 1968 Oct 02; 27(4):1075-7. PubMed ID: 4298064
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  • 18. Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.
    Kelley WN, Meade JC.
    J Biol Chem; 1971 May 10; 246(9):2953-8. PubMed ID: 5554300
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  • 19. Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
    Raivio KO, Seegmiller E.
    Biochim Biophys Acta; 1973 Mar 19; 299(2):273-82. PubMed ID: 4706453
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