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Journal Abstract Search

193 related items for PubMed ID: 15571220

  • 1. The spectrum of mutations causing HPRT deficiency: an update.
    Jinnah HA, Harris JC, Nyhan WL, O'Neill JP.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1153-60. PubMed ID: 15571220
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  • 2. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
    Yamada Y.
    Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
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  • 3. Partial HPRT deficiency phenotype and incomplete splicing mutation.
    Torres RJ, Garcia MG, Puig JG.
    Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):295-300. PubMed ID: 20544510
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  • 4. [Complete and partial deficiency of HPRT].
    Ogasawara N.
    Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
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  • 6. Lesch-Nyhan disease.
    Nyhan WL.
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):559-63. PubMed ID: 18600504
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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; 80(2):102-12. PubMed ID: 11307586
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  • 15. Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
    Yamada Y, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S.
    Nucleosides Nucleotides Nucleic Acids; 2014 Mar; 33(4-6):218-22. PubMed ID: 24940672
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  • 18. Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
    Marcus S, Christensen E, Malm G.
    Hum Mutat; 1993 Mar; 2(6):473-7. PubMed ID: 8111415
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  • 19. Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
    Jurecka A, Popowska E, Tylki-Szymanska A, Kubalska J, Ciara E, Krumina Z, Sykut-Cegielska J, Pronicka E.
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S447-51. PubMed ID: 19016344
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  • 20. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
    de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U.
    Mutat Res; 2010 Oct 13; 692(1-2):1-5. PubMed ID: 20638392
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