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Journal Abstract Search

209 related items for PubMed ID: 19118915

  • 1. Genotype-phenotype correlation in Italian children with Wilson's disease.
    Nicastro E, Loudianos G, Zancan L, D'Antiga L, Maggiore G, Marcellini M, Barbera C, Marazzi MG, Francavilla R, Pastore M, Vajro P, D'Ambrosi M, Vegnente A, Ranucci G, Iorio R.
    J Hepatol; 2009 Mar; 50(3):555-61. PubMed ID: 19118915
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  • 2. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
    Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
    Clin Genet; 2005 Dec; 68(6):524-32. PubMed ID: 16283883
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  • 3. 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; 21(2):245-8. PubMed ID: 16211609
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  • 6. 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; 56(1):115-20. PubMed ID: 16709660
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  • 7. Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
    Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T.
    Pediatr Int; 1999 Aug; 41(4):409-13. PubMed ID: 10453196
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  • 8. Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
    Loudianos G, Zappu A, Lepori MB, Incollu S, Dessì V, Mameli E, Garrucciu G, De Virgiliis S, Cao A.
    Dig Liver Dis; 2013 Apr; 45(4):342-5. PubMed ID: 23219664
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  • 9. Copper metabolism after living donor liver transplantation for hepatic failure of Wilson's disease from a gene mutated donor.
    Kobayashi S, Ochiai T, Hori S, Suzuki T, Shimizu T, Gunji Y, Shimada H, Yamamoto S, Ogawa A, Kohno Y, Sunaga M, Shimazu M, Tanaka K.
    Hepatogastroenterology; 2001 Apr; 48(41):1259-61. PubMed ID: 11677941
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  • 10. Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
    Barada K, El Haddad A, Katerji M, Jomaa M, Usta J.
    World J Gastroenterol; 2017 Sep 28; 23(36):6715-6725. PubMed ID: 29085216
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  • 11. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
    Abdelghaffar TY, Elsayed SM, Elsobky E, Bochow B, Büttner J, Schmidt H.
    J Hum Genet; 2008 Sep 28; 53(8):681. PubMed ID: 18483695
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  • 12. [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
    Zhou XY, Yin HX, Wang CL, Liu ZF, Zheng BX, Jin Y.
    Zhonghua Gan Zang Bing Za Zhi; 2020 Jul 20; 28(7):603-607. PubMed ID: 32791797
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  • 13. 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
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  • 14. 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 20; 19(2):105-11. PubMed ID: 17272994
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  • 16. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease.
    Schiefermeier M, Kollegger H, Madl C, Polli C, Oder W, Kühn H, Berr F, Ferenci P.
    Brain; 2000 Mar 20; 123 Pt 3():585-90. PubMed ID: 10686180
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  • 19. Wilson's disease: a patient undiagnosed for 18 years.
    Mak CM, Tam S, Fan ST, Liu CL, Lam CW.
    Hong Kong Med J; 2006 Apr 20; 12(2):154-8. PubMed ID: 16603785
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  • 20. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
    Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, Manesis E, Nousia-Arvanitakis S, Syriopoulou V, Kanavakis E.
    Am J Med Genet A; 2004 Dec 01; 131(2):168-73. PubMed ID: 15523622
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