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Journal Abstract Search

916 related items for PubMed ID: 20232290

  • 1. 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]

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

  • 3. Progressive familial intrahepatic cholestasis.
    Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E.
    Orphanet J Rare Dis; 2009 Jan 08; 4():1. PubMed ID: 19133130
    [Abstract] [Full Text] [Related]

  • 4. 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 08; 53(1):170-8. PubMed ID: 20447715
    [Abstract] [Full Text] [Related]

  • 5. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2.
    Maggiore G, Gonzales E, Sciveres M, Redon MJ, Grosse B, Stieger B, Davit-Spraul A, Fabre M, Jacquemin E.
    J Hepatol; 2010 Nov 08; 53(5):981-6. PubMed ID: 20800306
    [Abstract] [Full Text] [Related]

  • 6. 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 08; 55(5):308-13. PubMed ID: 20414253
    [Abstract] [Full Text] [Related]

  • 7. 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 May 08; 10(12):e0145021. PubMed ID: 26678486
    [Abstract] [Full Text] [Related]

  • 8. 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 08; 45(8):585-592. PubMed ID: 34942279
    [Abstract] [Full Text] [Related]

  • 9. 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 08; 236():113-123.e2. PubMed ID: 33915153
    [Abstract] [Full Text] [Related]

  • 10. Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients.
    Kang HJ, Hong SA, Oh SH, Kim KM, Yoo HW, Kim GH, Yu E.
    J Pathol Transl Med; 2019 Jul 08; 53(4):253-260. PubMed ID: 31091858
    [Abstract] [Full Text] [Related]

  • 11. Progressive familial intrahepatic cholestasis.
    Srivastava A.
    J Clin Exp Hepatol; 2014 Mar 08; 4(1):25-36. PubMed ID: 25755532
    [Abstract] [Full Text] [Related]

  • 12. Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2.
    Takahashi A, Hasegawa M, Sumazaki R, Suzuki M, Toki F, Suehiro T, Onigata K, Tomomasa T, Suzuki T, Matsui A, Morikawa A, Kuwano H.
    Eur J Gastroenterol Hepatol; 2007 Nov 08; 19(11):942-6. PubMed ID: 18049162
    [Abstract] [Full Text] [Related]

  • 13. 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 08; 48(2-3):273-84. PubMed ID: 25342496
    [Abstract] [Full Text] [Related]

  • 14. Current and future therapies for inherited cholestatic liver diseases.
    van der Woerd WL, Houwen RH, van de Graaf SF.
    World J Gastroenterol; 2017 Feb 07; 23(5):763-775. PubMed ID: 28223721
    [Abstract] [Full Text] [Related]

  • 15. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
    van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW.
    Gastroenterology; 2004 Aug 07; 127(2):379-84. PubMed ID: 15300568
    [Abstract] [Full Text] [Related]

  • 16. 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 07; 140(1):119-24. PubMed ID: 11815775
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 24(5):541-53. PubMed ID: 20955958
    [Abstract] [Full Text] [Related]

  • 18. Progressive familial intrahepatic cholestasis. Genetic basis and treatment.
    Jacquemin E.
    Clin Liver Dis; 2000 Nov 07; 4(4):753-63. PubMed ID: 11232355
    [Abstract] [Full Text] [Related]

  • 19. Progressive familial intrahepatic cholestasis: a personal perspective.
    Knisely AS.
    Pediatr Dev Pathol; 2000 Nov 07; 3(2):113-25. PubMed ID: 10679031
    [Abstract] [Full Text] [Related]

  • 20. Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells.
    Kagawa T, Watanabe N, Mochizuki K, Numari A, Ikeno Y, Itoh J, Tanaka H, Arias IM, Mine T.
    Am J Physiol Gastrointest Liver Physiol; 2008 Jan 07; 294(1):G58-67. PubMed ID: 17947449
    [Abstract] [Full Text] [Related]

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