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Journal Abstract Search

129 related items for PubMed ID: 477417

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  • 3. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
    Seegmiller JE.
    Adv Hum Genet; 1976; 6():75-163. PubMed ID: 779428
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  • 4. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome.
    Edwards A, Gibbs RA, Nguyen PN, Ansorge W, Caskey CT.
    Trans Assoc Am Physicians; 1989; 102():185-94. PubMed ID: 2638525
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  • 7. [Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier].
    Hernández Nieto L, Nyhan WL, Page T, Cubillo Ferreira G, Rodríguez Fernández M, González García T, Cabrera de León A, Santolaria Fernández FJ.
    Med Clin (Barc); 1985 Jan 19; 84(2):68-71. PubMed ID: 3974350
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  • 8. [Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?].
    Laroche C, Cremer GA, Sereni D, Auscher C.
    Bull Mem Acad R Med Belg; 1980 Jan 19; 135(3):219-31. PubMed ID: 7448460
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  • 10. Failure to diagnose Lesch-Nyhan syndrome by first trimester chorionic villus sampling.
    Gruber A, Zeitune M, Fejgin M.
    Prenat Diagn; 1989 Jun 19; 9(6):452-3. PubMed ID: 2762241
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  • 11. Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.
    Yamada Y, Suzumori K, Tanemura M, Goto H, Ogasawara N.
    Clin Genet; 1996 Sep 19; 50(3):164-7. PubMed ID: 8946118
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  • 13. Lesch-Nyhan syndrome: mutation, prevention, and therapy.
    Caskey CT.
    Res Publ Assoc Res Nerv Ment Dis; 1987 Sep 19; 65():187-94. PubMed ID: 3330841
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  • 14. [Lesch-Nyhan syndrome].
    Hernández Nieto L.
    Med Clin (Barc); 1994 May 14; 102(18):699-700. PubMed ID: 8028420
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  • 17. A female case of the Leach-Nyhan syndrome.
    Hara K, Kashiwamata S, Ogasawara N, Ohishi H, Natsume R, Yamanaka T, Hakamada S, Miyazaki S, Watanabe K.
    Tohoku J Exp Med; 1982 Jul 14; 137(3):275-82. PubMed ID: 7112549
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  • 20. Lesch-Nyhan disease.
    Nyhan WL.
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun 14; 27(6):559-63. PubMed ID: 18600504
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