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Journal Abstract Search

282 related items for PubMed ID: 1155984

  • 1. 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; 34(3):249-55. PubMed ID: 1155984
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  • 2. 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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  • 3. Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Emmerson BT, Wyngaarden JB.
    Science; 1969 Dec 19; 166(3912):1533-5. PubMed ID: 17695080
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  • 7. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
    Seegmiller JE.
    Adv Hum Genet; 1976 Dec 19; 6():75-163. PubMed ID: 779428
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  • 8. Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
    Cameron JS, Simmonds HA, Webster DR, Wass V, Sahota A.
    Adv Exp Med Biol; 1984 Dec 19; 165 Pt A():7-12. PubMed ID: 6720419
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  • 11. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
    Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P.
    Medicine (Baltimore); 2001 Mar 19; 80(2):102-12. PubMed ID: 11307586
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  • 17. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Torres RJ, Prior C, Puig JG.
    Metabolism; 2007 Sep 19; 56(9):1179-86. PubMed ID: 17697859
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  • 20. Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome.
    Mateos EA, Puig JG.
    J Inherit Metab Dis; 1994 Sep 19; 17(1):138-42. PubMed ID: 8051925
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