180 related articles for article (PubMed ID: 30298496)
1. [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]
2. Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
Lipiński P; Ciara E; Jurkiewicz D; Płoski R; Wawrzynowicz-Syczewska M; Pawłowska J; Jankowska I
Ann Hepatol; 2021; 25():100342. PubMed ID: 33757843
[TBL] [Abstract][Full Text] [Related]
3. Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.
Tan YW; Ji HL; Lu ZH; Ge GH; Sun L; Zhou XB; Sheng JH; Gong YH
World J Gastroenterol; 2018 Nov; 24(41):4716-4720. PubMed ID: 30416319
[TBL] [Abstract][Full Text] [Related]
4. Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G; Gitto S; Raimondi F; Mattiaccio A; Mantovani V; Vukotic R; D'Errico A; Seri M; Russell RB; Andreone P
J Gastroenterol; 2018 Aug; 53(8):945-958. PubMed ID: 29238877
[TBL] [Abstract][Full Text] [Related]
5. Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report.
Wu Z; Zhang S; Zhang L; Li M
Diagn Pathol; 2020 Apr; 15(1):39. PubMed ID: 32321542
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3.
Frider B; Castillo A; Gordo-Gilart R; Bruno A; Amante M; Alvarez L; Mathet V
Ann Hepatol; 2015; 14(5):745-51. PubMed ID: 26256905
[TBL] [Abstract][Full Text] [Related]
8. Evaluation of a Novel Missense Mutation in
Saleem K; Cui Q; Zaib T; Zhu S; Qin Q; Wang Y; Dam J; Ji W; Liu P; Jia X; Wu J; Bai J; Fu S; Sun W
Dis Markers; 2020; 2020():6292818. PubMed ID: 32626542
[TBL] [Abstract][Full Text] [Related]
9. [Progressive familial intrahepatic cholestasis type 3].
Lipiński P; Jankowska I
Dev Period Med; 2018; 22(4):385-389. PubMed ID: 30636238
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C; Bonus M; Baumann U; Klindt C; Lainka E; Kathemann S; Brinkert F; Grabhorn E; Pfister ED; Wenning D; Fichtner A; Gotthardt DN; Weiss KH; McKiernan P; Puri RD; Verma IC; Kluge S; Gohlke H; Schmitt L; Kubitz R; Häussinger D; Keitel V
J Hepatol; 2017 Dec; 67(6):1253-1264. PubMed ID: 28733223
[TBL] [Abstract][Full Text] [Related]
12. A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
Küçükçongar Yavaş A; Çavdarlı B; Ünal Uzun Ö; Uncuoğlu A; Gündüz M
J Pediatr Endocrinol Metab; 2020 May; 33(5):665-669. PubMed ID: 32229667
[TBL] [Abstract][Full Text] [Related]
13. [Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3].
Shen YL; Zhang XT; Xun YH
Zhonghua Gan Zang Bing Za Zhi; 2023 Mar; 31(3):307-313. PubMed ID: 37137858
[No Abstract] [Full Text] [Related]
14. [Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis].
Wu Q; Ma B; Yang S; Mei S; Ma X; Kong X; Shi H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):789-793. PubMed ID: 31400129
[TBL] [Abstract][Full Text] [Related]
15. ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
Al-Hussaini A; Lone K; Bashir MS; Alrashidi S; Fagih M; Alanazi A; AlYaseen S; Almayouf A; Alruwaithi M; Asery A
J Pediatr; 2021 Sep; 236():113-123.e2. PubMed ID: 33915153
[TBL] [Abstract][Full Text] [Related]
16. Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice.
Aronson SJ; Bakker RS; Shi X; Duijst S; Ten Bloemendaal L; de Waart DR; Verheij J; Ronzitti G; Oude Elferink RP; Beuers U; Paulusma CC; Bosma PJ
J Hepatol; 2019 Jul; 71(1):153-162. PubMed ID: 30935993
[TBL] [Abstract][Full Text] [Related]
17. Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Stättermayer AF; Halilbasic E; Wrba F; Ferenci P; Trauner M
J Hepatol; 2020 Sep; 73(3):651-663. PubMed ID: 32376413
[TBL] [Abstract][Full Text] [Related]
18. Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
Sun HZ; Shi H; Zhang SC; Shen XZ
World J Gastroenterol; 2015 Jan; 21(2):699-703. PubMed ID: 25593501
[TBL] [Abstract][Full Text] [Related]
19. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Jacquemin E; De Vree JM; Cresteil D; Sokal EM; Sturm E; Dumont M; Scheffer GL; Paul M; Burdelski M; Bosma PJ; Bernard O; Hadchouel M; Elferink RP
Gastroenterology; 2001 May; 120(6):1448-58. PubMed ID: 11313315
[TBL] [Abstract][Full Text] [Related]
20. ABCB4 disease: Many faces of one gene deficiency.
Sticova E; Jirsa M
Ann Hepatol; 2020; 19(2):126-133. PubMed ID: 31759867
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]