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Journal Abstract Search

129 related items for PubMed ID: 477417

  • 21. Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease.
    Bakay B, Francke U, Nyhan WL, Seegmiller JE.
    Adv Exp Med Biol; 1977; 76A():351-8. PubMed ID: 855715
    [No Abstract] [Full Text] [Related]

  • 22. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
    Kim KJ, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.
    J Korean Med Sci; 1997 Aug; 12(4):332-9. PubMed ID: 9288634
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  • 23. Advances in the study of inherited metabolic disease.
    Gibbs DA.
    J Inherit Metab Dis; 1989 Aug; 12(2):240-6. PubMed ID: 2569050
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  • 24. Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.
    Torres RJ, Garcia MG, Puig JG.
    Gene; 2012 Dec 15; 511(2):306-7. PubMed ID: 23046577
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  • 25. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
    Wu CL, Melton DW.
    Nat Genet; 1993 Mar 15; 3(3):235-40. PubMed ID: 8485579
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  • 26. Diagnosis of Lesch-Nyhan heterozygotes by peripheral blood.
    Kamatani N, Yamanaka H, Nishioka K, Nishida Y, Mikanagi K.
    Adv Exp Med Biol; 1986 Mar 15; 195 Pt A():157-62. PubMed ID: 3728148
    [No Abstract] [Full Text] [Related]

  • 27. [Sex-related neurologic diseases. Hunter's disease. Lesch-Nyhan syndrome].
    Nieto Barrera M.
    An Esp Pediatr; 1984 Oct 15; 21 Suppl 20():47-50. PubMed ID: 6440462
    [No Abstract] [Full Text] [Related]

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  • 35. [Lesch-Nyhan syndrome].
    Akaoka I.
    Nihon Rinsho; 1975 Feb 10; 33(2):340-4. PubMed ID: 1170375
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  • 36. [Analysis of HPRT1 gene variant and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome but no specimen from affected probands].
    Tong M, Li Q, Sun A, Chen C, Hu S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov 10; 39(11):1243-1246. PubMed ID: 36317211
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  • 37. Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.
    Taniguchi A, Yamada Y, Hakoda M, Sekita C, Kawamoto M, Kaneko H, Yamanaka H.
    Nucleosides Nucleotides Nucleic Acids; 2011 Dec 10; 30(12):1266-71. PubMed ID: 22132985
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  • 39. Genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) carrier status by restriction analysis and directed mutagenesis.
    Torres RJ, Buño A, Molano J, Mateos FA, Puig JG.
    Adv Exp Med Biol; 1998 Dec 10; 431():201-4. PubMed ID: 9598059
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