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412 related items for PubMed ID: 20447715

  • 1. 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]

  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 117(6):1370-9. PubMed ID: 10579978
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

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

  • 9. Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.
    Kubitz R, Dröge C, Kluge S, Stross C, Walter N, Keitel V, Häussinger D, Stindt J.
    Clin Rev Allergy Immunol; 2015 Jun 01; 48(2-3):273-84. PubMed ID: 25342496
    [Abstract] [Full Text] [Related]

  • 10. Progressive familial intrahepatic cholestasis.
    Jacquemin E.
    Clin Res Hepatol Gastroenterol; 2012 Sep 01; 36 Suppl 1():S26-35. PubMed ID: 23141890
    [Abstract] [Full Text] [Related]

  • 11. [Childhood cholestasis and bile transporters].
    Hierro L, Jara P.
    Gastroenterol Hepatol; 2005 Sep 01; 28(7):388-95. PubMed ID: 16137474
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Genetic cholestasis, causes and consequences for hepatobiliary transport.
    Jansen PL, Sturm E.
    Liver Int; 2003 Oct 15; 23(5):315-22. PubMed ID: 14708891
    [Abstract] [Full Text] [Related]

  • 14. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
    Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, Emerick K, Wanty C, Wali S, Blanchard S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Houwen R, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Sokal E, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ.
    Hepatol Commun; 2018 May 15; 2(5):515-528. PubMed ID: 29761168
    [Abstract] [Full Text] [Related]

  • 15. Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.
    Treepongkaruna S, Gaensan A, Pienvichit P, Luksan O, Knisely AS, Sornmayura P, Jirsa M.
    World J Gastroenterol; 2009 Sep 14; 15(34):4339-42. PubMed ID: 19750581
    [Abstract] [Full Text] [Related]

  • 16. ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
    Li LT, Li ZD, Yang Y, Lu Y, Xie XB, Chen L, Feng JY, Knisely AS, Wang JS.
    Liver Int; 2020 Nov 14; 40(11):2788-2796. PubMed ID: 32808743
    [Abstract] [Full Text] [Related]

  • 17. Progressive Familial Intrahepatic Cholestasis.
    Bull LN, Thompson RJ.
    Clin Liver Dis; 2018 Nov 14; 22(4):657-669. PubMed ID: 30266155
    [Abstract] [Full Text] [Related]

  • 18. 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 Nov 14; 10(12):e0145021. PubMed ID: 26678486
    [Abstract] [Full Text] [Related]

  • 19. Bile salt excretory pump: biology and pathobiology.
    Suchy FJ, Ananthanarayanan M.
    J Pediatr Gastroenterol Nutr; 2006 Jul 14; 43 Suppl 1():S10-6. PubMed ID: 16819395
    [Abstract] [Full Text] [Related]

  • 20. 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 14; 24(5):541-53. PubMed ID: 20955958
    [Abstract] [Full Text] [Related]

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