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Journal Abstract Search

215 related items for PubMed ID: 11815775

  • 1. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.
    Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH, Jeng YM, Shau WY, Chang MH.
    J Pediatr; 2002 Jan; 140(1):119-24. PubMed ID: 11815775
    [Abstract] [Full Text] [Related]

  • 2. Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
    Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN.
    J Hepatol; 2010 Jul; 53(1):170-8. PubMed ID: 20447715
    [Abstract] [Full Text] [Related]

  • 3. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
    Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E.
    Hepatology; 2010 May; 51(5):1645-55. PubMed ID: 20232290
    [Abstract] [Full Text] [Related]

  • 4. Progressive familial intrahepatic cholestasis.
    Jacquemin E.
    Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S26-35. PubMed ID: 23141890
    [Abstract] [Full Text] [Related]

  • 5. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.
    Alvarez L, Jara P, Sánchez-Sabaté E, Hierro L, Larrauri J, Díaz MC, Camarena C, De la Vega A, Frauca E, López-Collazo E, Lapunzina P.
    Hum Mol Genet; 2004 Oct 15; 13(20):2451-60. PubMed ID: 15317749
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 67(6):1253-1264. PubMed ID: 28733223
    [Abstract] [Full Text] [Related]

  • 7. Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect?
    Chen HL, Chang PS, Hsu HC, Lee JH, Ni YH, Hsu HY, Jeng YM, Chang MH.
    Pediatr Res; 2001 Jul 15; 50(1):50-5. PubMed ID: 11420418
    [Abstract] [Full Text] [Related]

  • 8. Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
    Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P.
    PLoS One; 2015 Jul 15; 10(12):e0145021. PubMed ID: 26678486
    [Abstract] [Full Text] [Related]

  • 9. Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
    Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, Shneider BL, Childhood Liver Disease Research Network (ChiLDReN).
    J Pediatr Gastroenterol Nutr; 2021 Aug 01; 73(2):169-177. PubMed ID: 34016879
    [Abstract] [Full Text] [Related]

  • 10. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
    Liu LY, Wang XH, Wang ZL, Zhu QR, Wang JS.
    J Pediatr Gastroenterol Nutr; 2010 Feb 01; 50(2):179-83. PubMed ID: 20038848
    [Abstract] [Full Text] [Related]

  • 11. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.
    Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M.
    Gastroenterology; 1999 Dec 01; 117(6):1370-9. PubMed ID: 10579978
    [Abstract] [Full Text] [Related]

  • 12. Progressive familial intrahepatic cholestasis: a personal perspective.
    Knisely AS.
    Pediatr Dev Pathol; 2000 Dec 01; 3(2):113-25. PubMed ID: 10679031
    [Abstract] [Full Text] [Related]

  • 13. Hepatotoxicity from anabolic androgenic steroids marketed as dietary supplements: contribution from ATP8B1/ABCB11 mutations?
    El Sherrif Y, Potts JR, Howard MR, Barnardo A, Cairns S, Knisely AS, Verma S.
    Liver Int; 2013 Sep 01; 33(8):1266-70. PubMed ID: 23750872
    [Abstract] [Full Text] [Related]

  • 14. Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.
    Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, Hsu HY, Wu TC, Chang MH.
    J Pediatr; 2008 Dec 01; 153(6):825-32. PubMed ID: 18692205
    [Abstract] [Full Text] [Related]

  • 15. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
    Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J.
    Gastroenterol Hepatol; 2022 Oct 01; 45(8):585-592. PubMed ID: 34942279
    [Abstract] [Full Text] [Related]

  • 16. [Liver disease associated with hereditary defects of hepatobiliary transporters].
    Wendum D.
    Ann Pathol; 2010 Dec 01; 30(6):426-31. PubMed ID: 21167428
    [Abstract] [Full Text] [Related]

  • 17. ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.
    Liu LY, Wang ZL, Wang XH, Zhu QR, Wang JS.
    Liver Int; 2010 Jul 01; 30(6):809-15. PubMed ID: 19845854
    [Abstract] [Full Text] [Related]

  • 18. Cholestasis in a patient with gallstones and a normal gamma-glutamyl transferase.
    Moghadamrad S, Montani M, Weimann R, De Gottardi A.
    Hepatology; 2013 Jun 01; 57(6):2539-41. PubMed ID: 23446990
    [Abstract] [Full Text] [Related]

  • 19. DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.
    Shapiro R, Anikster Y, Yardeni T, Korem S, Hartman K, Shamir R, Broide E, Levine A, Bujanover Y, Bercovich D.
    J Hum Genet; 2010 May 01; 55(5):308-13. PubMed ID: 20414253
    [Abstract] [Full Text] [Related]

  • 20. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
    Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ.
    Gastroenterology; 2008 Apr 01; 134(4):1203-14. PubMed ID: 18395098
    [Abstract] [Full Text] [Related]

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