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Journal Abstract Search

434 related items for PubMed ID: 17433323

  • 1. Late-onset Wilson's disease.
    Ferenci P, Członkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt HT, Stremmel W.
    Gastroenterology; 2007 Apr; 132(4):1294-8. PubMed ID: 17433323
    [Abstract] [Full Text] [Related]

  • 2. Late onset fulminant Wilson's disease: a case report and review of the literature.
    Weitzman E, Pappo O, Weiss P, Frydman M, Haviv-Yadid Y, Ben Ari Z.
    World J Gastroenterol; 2014 Dec 14; 20(46):17656-60. PubMed ID: 25516681
    [Abstract] [Full Text] [Related]

  • 3. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
    Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, Naginiene R, Schmidt H, Kupcinskas L.
    World J Gastroenterol; 2008 Oct 14; 14(38):5876-9. PubMed ID: 18855987
    [Abstract] [Full Text] [Related]

  • 4. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
    Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
    Mov Disord; 2006 Feb 14; 21(2):245-8. PubMed ID: 16211609
    [Abstract] [Full Text] [Related]

  • 5. Phenotype-genotype correlations in patients with Wilson's disease.
    Ferenci P.
    Ann N Y Acad Sci; 2014 May 14; 1315():1-5. PubMed ID: 24517292
    [Abstract] [Full Text] [Related]

  • 6. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
    Folhoffer A, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.
    Eur J Gastroenterol Hepatol; 2007 Feb 14; 19(2):105-11. PubMed ID: 17272994
    [Abstract] [Full Text] [Related]

  • 7. Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation.
    Litwin T, Gromadzka G, Członkowska A.
    Parkinsonism Relat Disord; 2012 May 14; 18(4):367-9. PubMed ID: 22221592
    [Abstract] [Full Text] [Related]

  • 8. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study.
    Merle U, Schaefer M, Ferenci P, Stremmel W.
    Gut; 2007 Jan 14; 56(1):115-20. PubMed ID: 16709660
    [Abstract] [Full Text] [Related]

  • 9. The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
    Iacob R, Iacob S, Nastase A, Vagu C, Ene AM, Constantinescu A, Anghel D, Banica C, Paslaru L, Coriu D, Dima S, Gheorghe C, Ionica E, Gheorghe L.
    J Gastrointestin Liver Dis; 2012 Jun 14; 21(2):181-5. PubMed ID: 22720308
    [Abstract] [Full Text] [Related]

  • 10. Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
    Liu Y, Zhou H, Guo H, Bai Y.
    Arch Med Res; 2015 Feb 14; 46(2):164-9. PubMed ID: 25704634
    [Abstract] [Full Text] [Related]

  • 11. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
    Bruha R, Marecek Z, Pospisilova L, Nevsimalova S, Vitek L, Martasek P, Nevoral J, Petrtyl J, Urbanek P, Jiraskova A, Ferenci P.
    Liver Int; 2011 Jan 14; 31(1):83-91. PubMed ID: 20958917
    [Abstract] [Full Text] [Related]

  • 12. [Wilson disease: an update].
    Seo JK.
    Korean J Hepatol; 2006 Sep 14; 12(3):333-63. PubMed ID: 16998287
    [Abstract] [Full Text] [Related]

  • 13. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
    Lee BH, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW.
    Liver Int; 2011 Jul 14; 31(6):831-9. PubMed ID: 21645214
    [Abstract] [Full Text] [Related]

  • 14. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].
    Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.
    Zhonghua Er Ke Za Zhi; 2003 Jan 14; 41(1):35-8. PubMed ID: 14761325
    [Abstract] [Full Text] [Related]

  • 15. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
    Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M, Stanley M, Selvi S, Kurian G, Chandy GM.
    Indian J Gastroenterol; 2006 Jan 14; 25(6):277-82. PubMed ID: 17264425
    [Abstract] [Full Text] [Related]

  • 16. Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
    Zhang DF, Teng JF.
    Genet Mol Res; 2016 Sep 23; 15(3):. PubMed ID: 27706781
    [Abstract] [Full Text] [Related]

  • 17. [Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].
    Xia JK, Ning HF, Luo X, Zeng Y, Chen YB, Kong XD.
    Zhonghua Gan Zang Bing Za Zhi; 2024 Jun 20; 32(6):558-562. PubMed ID: 38964899
    [Abstract] [Full Text] [Related]

  • 18. Wilson's disease in Sardinian population: The experience of a pediatric referral center.
    Loudianos G, Satta S, Lepori MB, Anni F, Balloi R, Soddu C, Fenu ML, Lilliu F, Nurchi AM, De Virgiliis S.
    J Pediatr Gastroenterol Nutr; 2024 Oct 20; 79(4):807-817. PubMed ID: 39113473
    [Abstract] [Full Text] [Related]

  • 19. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
    Yuan ZF, Wu W, Yu YL, Shen J, Mao SS, Gao F, Xia ZZ.
    World J Pediatr; 2015 Aug 20; 11(3):255-60. PubMed ID: 26253413
    [Abstract] [Full Text] [Related]

  • 20. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
    Tomić A, Dobricić V, Novaković I, Svetel M, Pekmezović T, Kresojević N, Potrebić A, Kostić VS.
    Vojnosanit Pregl; 2013 May 20; 70(5):457-62. PubMed ID: 23789284
    [Abstract] [Full Text] [Related]

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