194 related articles for article (PubMed ID: 33842647)
21. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
Dixon PH; Weerasekera N; Linton KJ; Donaldson O; Chambers J; Egginton E; Weaver J; Nelson-Piercy C; de Swiet M; Warnes G; Elias E; Higgins CF; Johnston DG; McCarthy MI; Williamson C
Hum Mol Genet; 2000 May; 9(8):1209-17. PubMed ID: 10767346
[TBL] [Abstract][Full Text] [Related]
22. Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Cao L; Ling X; Yan J; Feng D; Dong Y; Xu Z; Wang F; Zhu S; Gao Y; Cao Z; Zhang M
Orphanet J Rare Dis; 2024 Apr; 19(1):157. PubMed ID: 38610052
[TBL] [Abstract][Full Text] [Related]
23. Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in
Cheng J; Gong L; Mi X; Wu X; Zheng J; Yang W
Front Med (Lausanne); 2022; 9():962408. PubMed ID: 36569137
[TBL] [Abstract][Full Text] [Related]
24. Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Fathy M; Kamal M; Al-Sharkawy M; Al-Karaksy H; Hassan N
Biomarkers; 2016 Nov; 21(7):573-7. PubMed ID: 27075526
[TBL] [Abstract][Full Text] [Related]
25. Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?
Oliveira HM; Pereira C; Santos Silva E; Pinto-Basto J; Pessegueiro Miranda H
Dig Liver Dis; 2016 Feb; 48(2):203-5. PubMed ID: 26699824
[TBL] [Abstract][Full Text] [Related]
26. [Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter].
Muehlenberg K; Wiedmann K; Keppeler H; Sauerbruch T; Lammert F
Z Gastroenterol; 2008 Jan; 46(1):48-53. PubMed ID: 18188816
[TBL] [Abstract][Full Text] [Related]
27. Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.
Poupon R; Barbu V; Chamouard P; Wendum D; Rosmorduc O; Housset C
Liver Int; 2010 Feb; 30(2):327-31. PubMed ID: 19840255
[TBL] [Abstract][Full Text] [Related]
28. Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.
Goubran M; Aderibigbe A; Jacquemin E; Guettier C; Girgis S; Bain V; Mason AL
BMC Med Genet; 2020 Nov; 21(1):238. PubMed ID: 33256620
[TBL] [Abstract][Full Text] [Related]
29. [Clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3].
Deng M; Guo L; Song Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct; 35(5):686-690. PubMed ID: 30298496
[TBL] [Abstract][Full Text] [Related]
30. Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.
Boga S; Jain D; Schilsky ML
Pediatr Gastroenterol Hepatol Nutr; 2015 Sep; 18(3):202-8. PubMed ID: 26473142
[TBL] [Abstract][Full Text] [Related]
31. The Multiple Facets of ABCB4 (MDR3) Deficiency.
Sundaram SS; Sokol RJ
Curr Treat Options Gastroenterol; 2007 Dec; 10(6):495-503. PubMed ID: 18221610
[TBL] [Abstract][Full Text] [Related]
32. Variable Intrafamilial Expression of ABCB4 Disease.
Zampaglione L; Rougemont AL; Rubbia-Brandt L; Abramowicz M; Guipponi M; Marchionni E; Valerie M; Goossens N
ACG Case Rep J; 2023 Aug; 10(8):e01113. PubMed ID: 37575491
[TBL] [Abstract][Full Text] [Related]
33. The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.
Falcão D; Pedroto I; Moreira T
Dig Liver Dis; 2022 Feb; 54(2):221-227. PubMed ID: 34376370
[TBL] [Abstract][Full Text] [Related]
34. Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease.
Ge T; Zhang X; Xiao Y; Wang Y; Zhang T
BMC Med Genet; 2019 Jan; 20(1):18. PubMed ID: 30658709
[TBL] [Abstract][Full Text] [Related]
35. Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.
Huynh MT; Delaunay JL; Muller L; Corpechot C; Tran CT; Barbu V
Rev Esp Enferm Dig; 2019 Jan; 111(1):76-79. PubMed ID: 30449124
[TBL] [Abstract][Full Text] [Related]
36. Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL; van Mil SW; Stapelbroek JM; Klomp LW; van de Graaf SF; Houwen RH
Best Pract Res Clin Gastroenterol; 2010 Oct; 24(5):541-53. PubMed ID: 20955958
[TBL] [Abstract][Full Text] [Related]
37. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
Delaunay JL; Durand-Schneider AM; Delautier D; Rada A; Gautherot J; Jacquemin E; Aït-Slimane T; Maurice M
Hepatology; 2009 Apr; 49(4):1218-27. PubMed ID: 19185004
[TBL] [Abstract][Full Text] [Related]
38. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
Wei CS; Becher N; Friis JB; Ott P; Vogel I; Grønbæk H
World J Gastroenterol; 2020 Feb; 26(5):550-561. PubMed ID: 32089630
[TBL] [Abstract][Full Text] [Related]
39. A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.
Oliveira HM; Pereira C; Santos-Silva E; Pinto-Basto J; Vizcaíno JR; Pessegueiro-Miranda H
Eur J Case Rep Intern Med; 2017; 4(2):000537. PubMed ID: 30755924
[TBL] [Abstract][Full Text] [Related]
40. Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
de Vries E; Mazzetti M; Takkenberg B; Mostafavi N; Bikker H; Marzioni M; de Veer R; van der Meer A; Doukas M; Verheij J; Beuers U
Liver Int; 2020 Dec; 40(12):3042-3050. PubMed ID: 32893960
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
