Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

被引：12
|
作者：
Anheim, M. [1 ,2 ]
Chamouard, P. [3 ]
Rudolf, G. [2 ]
Ellero, B. [4 ]
Vercueil, L. [5 ]
Goichot, B. [6 ]
Marescaux, C. [2 ]
Tranchant, C. [2 ]
机构：
[1] Hop La Pitie Salpetriere, Serv Genet, Ctr Reference Malad Neurogenet Enfant & Adulte, Neurogenet Dept, Paris, France
[2] Hop Univ, Dept Neurol, Strasbourg, France
[3] Hop Univ, Dept Gastroenterol, Strasbourg, France
[4] Hop Univ, Dept Transplantat, Strasbourg, France
[5] A Michallon Hosp, Dept Neurol, Grenoble, France
[6] Hop Univ, Dept Internal Med & Nutr, Strasbourg, France
来源：
CLINICAL GENETICS | 2010年 / 78卷 / 03期
关键词：
D O I：
10.1111/j.1399-0004.2010.01386.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：294 / 295
页数：2
相关论文
共 48 条
  • [1] ABCB4/MDR3 gene mutations and cholangiocarcinomas
    Tougeron, David
    Fotsing, Ginette
    Barbu, Veronique
    Beauchant, Michel
    JOURNAL OF HEPATOLOGY, 2012, 57 (02) : 467 - 468
  • [2] ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine
    Prescher, Martin
    Kroll, Tim
    Schmitt, Lutz
    BIOLOGICAL CHEMISTRY, 2019, 400 (10) : 1245 - 1259
  • [3] The multiple facets of ABCB4 (MDR3) deficiency
    Sundaram S.S.
    Sokol R.J.
    Current Treatment Options in Gastroenterology, 2007, 10 (6) : 495 - 503
  • [4] Liver diseases related to MDR3 (ABCB4) gene deficiency
    Gonzales, Emmanuel
    Davit-Spraul, Anne
    Baussan, Christiane
    Buffet, Catherine
    Maurice, Michele
    Jacquemin, Emmanuel
    FRONTIERS IN BIOSCIENCE-LANDMARK, 2009, 14 : 4242 - 4256
  • [5] Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein)
    Ronald P. J. Oude Elferink
    Coen C. Paulusma
    Pflügers Archiv - European Journal of Physiology, 2007, 453 : 601 - 610
  • [6] ABCB4/MDR3 gene mutations in young patients with symptomatic cholelithiasis
    Gouveia, Catarina
    de Lima, Margarida Flor
    Pereira, Flavio
    Rosa, Bruno
    Duarte, Maria Antonia
    Banhudo, Antonio
    Cotter, Jose
    Ferreira, Alexandre
    Cravo, Marilia
    Nunes, Joana
    JOURNAL OF HEPATOLOGY, 2020, 73 : S539 - S539
  • [7] Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein)
    Elferink, Ronald P. J. Oude
    Paulusma, Coen C.
    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2007, 453 (05): : 601 - 610
  • [8] ABCB4/MDR3 DEFICIENCY CONFERS SUSCEPTIBILITY TO EXTRAHEPATIC BILIARY ATRESIA
    Menchise, A.
    Bessho, K.
    Simmons, J.
    Bove, K.
    Moran, M.
    Weber, S.
    Silva-Lages, C.
    Bezerra, J.
    Miethke, A.
    JOURNAL OF HEPATOLOGY, 2013, 58 : S560 - S561
  • [9] MDR3 (ABCB4) defects:: A paradigm for the genetics of adult cholestatic syndromes
    Trauner, Michael
    Fickert, Peter
    Wagner, Martin
    SEMINARS IN LIVER DISEASE, 2007, 27 (01) : 77 - 98
  • [10] Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay
    Julie Benzimra
    Sarah Derhy
    Olivier Rosmorduc
    Yves Menu
    Raoul Poupon
    Lionel Arrivé
    Insights into Imaging, 2013, 4 (3) : 331 - 338
12345