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Journal Abstract Search

183 related items for PubMed ID: 4096858

  • 1. Adenine therapy in Lesch-Nyhan syndrome.
    Bührdel P, Krüger W, Hirschberg K, Wehnert M.
    Acta Paediatr Hung; 1985; 26(4):327-33. PubMed ID: 4096858
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  • 2. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Torres RJ, Prior C, Puig JG.
    Metabolism; 2007 Sep; 56(9):1179-86. PubMed ID: 17697859
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  • 6. [Erythrocyte purine phosphoribosyltransferase activity in girls with the Lesch-Nyhan syndrome].
    Aleksandrova LA, Shaposhnikov AM.
    Vopr Med Khim; 1981 Sep; 27(4):488-92. PubMed ID: 7293080
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  • 7. Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
    Jacomelli G, Baldini E, Mugnaini C, Micheli V, Bernardini G, Santucci A.
    J Inherit Metab Dis; 2019 Jan; 42(1):178-185. PubMed ID: 30740729
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  • 8. The diagnosis of HPRT deficiency in the 21st century.
    Torres RJ, Puig JG.
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):564-9. PubMed ID: 18600505
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  • 9. [Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency].
    López Jiménez M, García Puig J, Mateos Antón F, Ramos Hernández T, Pascual Castroviejo I, Ortiz Vázquez J.
    Med Clin (Barc); 1989 Feb 11; 92(5):167-70. PubMed ID: 2725104
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  • 10. Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Sorensen LB.
    J Clin Invest; 1970 May 11; 49(5):968-78. PubMed ID: 5441549
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  • 13. Xanthine-containing calculi during allopurinol therapy.
    Kranen S, Keough D, Gordon RB, Emmerson BT.
    J Urol; 1985 Apr 11; 133(4):658-9. PubMed ID: 3981718
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  • 14. Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF.
    Harkness RA, McCreanor GM, Watts RW.
    J Inherit Metab Dis; 1988 Apr 11; 11(3):239-52. PubMed ID: 3148065
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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 11; 11(5):691-4. PubMed ID: 870876
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  • 18. Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Puig JG, Mateos FA, Torres RJ, Buño AS.
    Eur J Clin Invest; 1998 Nov 11; 28(11):950-7. PubMed ID: 9824441
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  • 19. The Lesch-Nyhan syndrome.
    Nyhan WL.
    Adv Nephrol Necker Hosp; 1974 Nov 11; 3():59-70. PubMed ID: 4219709
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  • 20. Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
    Gucev Z, Koceva S, Marinaki A, Fairbanks L, Kirovski I, Tasic V.
    Clin Genet; 2010 Sep 11; 78(3):296-7. PubMed ID: 20695874
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