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362 related items for PubMed ID: 24476933

  • 1. A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
    Chen L, Li X, Zheng Z, Lu X, Lin M, Pan C, Liu J.
    Gene; 2014 Mar 15; 538(1):204-6. PubMed ID: 24476933
    [Abstract] [Full Text] [Related]

  • 2. 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 Mar 15; 48(41):1259-61. PubMed ID: 11677941
    [Abstract] [Full Text] [Related]

  • 3. Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient.
    Kok KF, Hoevenaars B, Waanders E, Drenth JP.
    Neth J Med; 2008 Sep 15; 66(8):348-50. PubMed ID: 18809983
    [Abstract] [Full Text] [Related]

  • 4. A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure.
    Okada T, Morise T, Takeda Y, Mabuchi H.
    J Gastroenterol; 2000 Sep 15; 35(4):278-83. PubMed ID: 10777157
    [Abstract] [Full Text] [Related]

  • 5. Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
    Sundaresan S, Eapen CE, Shaji RV, Chandy M, Kurian G, Chandy G.
    Med Sci Monit; 2007 Mar 15; 13(3):CS38-40. PubMed ID: 17325640
    [Abstract] [Full Text] [Related]

  • 6. Genetics of Wilsons disease.
    Behari M, Pardasani V.
    Parkinsonism Relat Disord; 2010 Dec 15; 16(10):639-44. PubMed ID: 20708958
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 11(3):255-60. PubMed ID: 26253413
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 21(2):245-8. PubMed ID: 16211609
    [Abstract] [Full Text] [Related]

  • 9. New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
    Lu CX, Qing Lin, Huang WQ, Tzeng CM.
    Eur J Med Genet; 2014 Sep 15; 57(9):498-502. PubMed ID: 24878384
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 68(6):524-32. PubMed ID: 16283883
    [Abstract] [Full Text] [Related]

  • 11. Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
    Jung S, Whiteaker JR, Zhao L, Yoo HW, Paulovich AG, Hahn SH.
    J Proteome Res; 2017 Feb 03; 16(2):862-871. PubMed ID: 27935710
    [Abstract] [Full Text] [Related]

  • 12. Hepatocyte transplantation in the Long Evans Cinnamon rat model of Wilson's disease.
    Park SM, Vo K, Lallier M, Cloutier AS, Brochu P, Alvarez F, Martin SR.
    Cell Transplant; 2006 Feb 03; 15(1):13-22. PubMed ID: 16700326
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 45(4):342-5. PubMed ID: 23219664
    [Abstract] [Full Text] [Related]

  • 14. Clinical molecular diagnosis of Wilson disease.
    Bennett J, Hahn SH.
    Semin Liver Dis; 2011 Aug 03; 31(3):233-8. PubMed ID: 21901653
    [Abstract] [Full Text] [Related]

  • 15. [Wilson disease: an update].
    Seo JK.
    Korean J Hepatol; 2006 Sep 03; 12(3):333-63. PubMed ID: 16998287
    [Abstract] [Full Text] [Related]

  • 16. 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 Sep 03; 25(6):277-82. PubMed ID: 17264425
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.
    Arruda WO, Munhoz RP, de Bem RS, Deguti MM, Barbosa ER, Zavala JA, Teive HA.
    J Clin Neurosci; 2014 Feb 23; 21(2):335-6. PubMed ID: 23962630
    [Abstract] [Full Text] [Related]

  • 19. 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 23; 79(4):807-817. PubMed ID: 39113473
    [Abstract] [Full Text] [Related]

  • 20. [Clinicopathological features of Wilson disease: report of 29 cases].
    Zhang YG, Nan YM, Zhao SX, Wang TL, Jiang J.
    Zhonghua Yi Xue Za Zhi; 2013 May 14; 93(18):1422-5. PubMed ID: 24025510
    [Abstract] [Full Text] [Related]

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