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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 37 Issue 6
Jun.  2021
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ABCB4 gene mutation-associated liver cirrhosis misdiagnosed as Wilson's disease: A case report

DOI: 10.3969/j.issn.1001-5256.2021.06.039
  • Received Date: 2020-11-03
  • Accepted Date: 2020-12-07
  • Published Date: 2021-06-20
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    LI B. The role of ABCB4 gene in the pathogenesis of low phospholipid associated cholelithiasis[J]. Chin J Hepatobiliary Surg, 2012, 18(8): 646-648. DOI: 10.3760/cma.j.issn.1007-8118.2012.08.024.

    李波. ABCB4基因在低磷脂相关性胆石病发病机制中的作用[J]. 中华肝胆外科杂志, 2012, 18(8): 646-648. DOI: 10.3760/cma.j.issn.1007-8118.2012.08.024.
    [2]
    FALGUIÈRES T, AÏT-SLIMANE T, HOUSSET C, et al. ABCB4: Insights from pathobiology into therapy[J]. Clin Res Hepatol Gastroenterol, 2014, 38(5): 557-563. DOI: 10.1016/j.clinre.2014.03.001.
    [3]
    STICOVA E, JIRSA M. ABCB4 disease: Many faces of one gene deficiency[J]. Ann Hepatol, 2020, 19(2): 126-133. DOI: 10.1016/j.aohep.2019.09.010.
    [4]
    ZIOL M, BARBU V, ROSMORDUC O, et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults[J]. Gastroenterology, 2008, 135(1): 131-141. DOI: 10.1053/j.gastro.2008.03.044.
    [5]
    DAVIT-SPRAUL A, GONZALES E, BAUSSAN C, et al. The spectrum of liver diseases related to ABCB4 gene mutations: Pathophysiology and clinical aspects[J]. Semin Liver Dis, 2010, 30(2): 134-146. DOI: 10.1055/s-0030-1253223.
    [6]
    SHNEIDER BL. ABCB4 disease presenting with cirrhosis and copper overload-potential confusion with wilson disease[J]. J Clin Exp Hepatol, 2011, 1(2): 115-117. DOI: 10.1016/S0973-6883(11)60131-X.
    [7]
    CZŁONKOWSKA A, LITWIN T, DUSEK P, et al. Wilson disease[J]. Nat Rev Dis Primers, 2018, 4(1): 21. DOI: 10.1038/s41572-018-0018-3.
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    JOHNCILLA M, MITCHELL KA. Pathology of the liver in copper overload[J]. Semin Liver Dis, 2011, 31(3): 239-244. DOI: 10.1055/s-0031-1286055.
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    AAMANN L, ØRNTOFT N, VOGEL I, et al. Unexplained cholestasis in adults and adolescents: Diagnostic benefit of genetic examination[J]. Scand J Gastroenterol, 2018, 53(3): 305-311. DOI: 10.1080/00365521.2017.1422800.
    [10]
    CHEN SR, CHONG YT, LI XH. Pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism[J]. J Clin Hepatol, 2019, 35(8): 1667-1672. DOI: 10.3969/ j.issn.1001-5256.2019.08.003.

    陈淑如, 崇雨田, 李新华. 遗传性铜代谢异常的致病机制及临床诊断[J]. 临床肝胆病杂志, 2019, 35(8): 1667-1672. DOI: 10.3969/j.issn.1001-5256.2019.08.003.
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