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Journal Abstract Search

523 related items for PubMed ID: 8976112

  • 21. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
    Torres RJ, Puig JG.
    Orphanet J Rare Dis; 2007 Dec 08; 2():48. PubMed ID: 18067674
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  • 22. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
    De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP.
    Mol Genet Metab; 2005 May 08; 85(1):70-7. PubMed ID: 15862283
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  • 26. 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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  • 29. Lesch-Nyhan disease.
    Nyhan WL.
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun 13; 27(6):559-63. PubMed ID: 18600504
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  • 34. Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
    Zoref-Shani E, Bromberg Y, Hirsch J, Feinstein S, Frishberg Y, Sperling O.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct 13; 23(8-9):1165-8. PubMed ID: 15571222
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  • 37. Lesch-Nyhan Syndrome: report on two brothers.
    Yang MT, Mak SC, Chi CS, Lin HY, Lii YP, Wu KH, Shian WJ.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1994 Oct 13; 35(6):552-8. PubMed ID: 7831990
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  • 38. New mutations of the HPRT gene in Lesch-Nyhan syndrome.
    Mak BS, Chi CS, Tsai CR, Lee WJ, Lin HY.
    Pediatr Neurol; 2000 Oct 13; 23(4):332-5. PubMed ID: 11068166
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  • 39. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
    Pinto CS, Jinnah HA, Shirley TL, Nyhan WL, Seifert R.
    J Neurochem; 2005 Jun 13; 93(6):1579-86. PubMed ID: 15935074
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