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288 related items for PubMed ID: 19572946

  • 1. Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation.
    Lirong J, Jianjun J, Hua Z, Guoqiang F, Yuhao Z, Xiaoli P, Xiaomin Z, Yuwen Z, Yu M, Jie C, Jihong D, Yueshi M, Zhenyao M, Chunjiu Z.
    Eur J Neurol; 2009 Oct; 16(10):1130-7. PubMed ID: 19572946
    [Abstract] [Full Text] [Related]

  • 2. New novel mutation of the ATP7B gene in a family with Wilson disease.
    Lee JY, Kim YH, Kim TW, Oh SY, Kim DS, Shin BS.
    J Neurol Sci; 2012 Feb 15; 313(1-2):129-31. PubMed ID: 22075048
    [Abstract] [Full Text] [Related]

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

  • 4. 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]

  • 5. Diagnosis of Wilson's disease: a comprehensive review.
    Mak CM, Lam CW.
    Crit Rev Clin Lab Sci; 2008 Mar 15; 45(3):263-90. PubMed ID: 18568852
    [Abstract] [Full Text] [Related]

  • 6. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
    Seidel J, Caca K, Schwab SG, Berr F, Wildenauer DB, Mentzel HJ, Horn N, Kauf E.
    Cell Mol Biol (Noisy-le-grand); 2001 Mar 15; 47 Online Pub():OL149-57. PubMed ID: 11936861
    [Abstract] [Full Text] [Related]

  • 7. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep 15; 26(5):397-403. PubMed ID: 26215059
    [Abstract] [Full Text] [Related]

  • 8. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
    Merle U, Weiss KH, Eisenbach C, Tuma S, Ferenci P, Stremmel W.
    BMC Gastroenterol; 2010 Jan 18; 10():8. PubMed ID: 20082719
    [Abstract] [Full Text] [Related]

  • 9. Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.
    Li H, Liu L, Li Y, He S, Liu Y, Li J, Tao R, Li W, Shang S.
    Medicine (Baltimore); 2018 Jul 18; 97(27):e11405. PubMed ID: 29979436
    [Abstract] [Full Text] [Related]

  • 10. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR.
    Xu P, Liang X, Jankovic J, Le W.
    Arch Neurol; 2001 Nov 18; 58(11):1879-82. PubMed ID: 11708998
    [Abstract] [Full Text] [Related]

  • 11. 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 18; 21(2):245-8. PubMed ID: 16211609
    [Abstract] [Full Text] [Related]

  • 12. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.
    Am J Hum Genet; 1997 Aug 18; 61(2):317-28. PubMed ID: 9311736
    [Abstract] [Full Text] [Related]

  • 13. Clinical molecular diagnosis of Wilson disease.
    Bennett J, Hahn SH.
    Semin Liver Dis; 2011 Aug 18; 31(3):233-8. PubMed ID: 21901653
    [Abstract] [Full Text] [Related]

  • 14. [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]

  • 15. 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]

  • 16. 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 14; 68(6):524-32. PubMed ID: 16283883
    [Abstract] [Full Text] [Related]

  • 17. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.
    Rosencrantz R, Schilsky M.
    Semin Liver Dis; 2011 Aug 14; 31(3):245-59. PubMed ID: 21901655
    [Abstract] [Full Text] [Related]

  • 18. Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice.
    Merle U, Tuma S, Herrmann T, Muntean V, Volkmann M, Gehrke SG, Stremmel W.
    J Gastroenterol Hepatol; 2010 Jun 14; 25(6):1144-50. PubMed ID: 20594231
    [Abstract] [Full Text] [Related]

  • 19. Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.
    Park HD, Park HK, Chung HS, Lee SY, Kim JW, Ki CS.
    Ann Clin Lab Sci; 2010 Jun 14; 40(1):15-9. PubMed ID: 20124325
    [Abstract] [Full Text] [Related]

  • 20. 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]

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