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199 related items for PubMed ID: 33666275

  • 1. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
    van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ, Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium.
    Hepatology; 2021 Aug; 74(2):892-906. PubMed ID: 33666275
    [Abstract] [Full Text] [Related]

  • 2. Genotype correlates with the natural history of severe bile salt export pump deficiency.
    van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Björn Fischler, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Onal Z, Bunt TMG, Hansen BE, Verkade HJ, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium.
    J Hepatol; 2020 Jul; 73(1):84-93. PubMed ID: 32087350
    [Abstract] [Full Text] [Related]

  • 3. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
    Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium.
    JHEP Rep; 2023 Feb; 5(2):100626. PubMed ID: 36687469
    [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; 53(1):170-8. PubMed ID: 20447715
    [Abstract] [Full Text] [Related]

  • 5. Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and Alagille disease.
    Yang H, Porte RJ, Verkade HJ, De Langen ZJ, Hulscher JB.
    J Pediatr Gastroenterol Nutr; 2009 Aug; 49(2):216-21. PubMed ID: 19561545
    [Abstract] [Full Text] [Related]

  • 6. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.
    Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, Bernard O, Jacquemin E.
    J Hepatol; 2003 Sep; 39(3):447-52. PubMed ID: 12927934
    [Abstract] [Full Text] [Related]

  • 7. [Study on relationship between expression of familial intrahepatic cholestasis 1 mRNA in placenta and Intrahepatic cholestasis of pregnancy].
    Xu Z, Ke JC, Xing AY.
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2008 May; 39(3):430-3. PubMed ID: 18575333
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Maralixibat for the treatment of PFIC: Long-term, IBAT inhibition in an open-label, Phase 2 study.
    Loomes KM, Squires RH, Kelly D, Rajwal S, Soufi N, Lachaux A, Jankowska I, Mack C, Setchell KDR, Karthikeyan P, Kennedy C, Dorenbaum A, Desai NK, Garner W, Jaecklin T, Vig P, Miethke A, Thompson RJ.
    Hepatol Commun; 2022 Sep 01; 6(9):2379-2390. PubMed ID: 35507739
    [Abstract] [Full Text] [Related]

  • 10. Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis.
    Schukfeh N, Metzelder ML, Petersen C, Reismann M, Pfister ED, Ure BM, Kuebler JF.
    J Pediatr Surg; 2012 Mar 01; 47(3):501-5. PubMed ID: 22424345
    [Abstract] [Full Text] [Related]

  • 11. Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency.
    Squires JE, Celik N, Morris A, Soltys K, Mazariegos G, Shneider B, Squires RH.
    J Pediatr Gastroenterol Nutr; 2017 Mar 01; 64(3):425-430. PubMed ID: 28045770
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 67(6):1253-1264. PubMed ID: 28733223
    [Abstract] [Full Text] [Related]

  • 13. Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation.
    Ellinger P, Stindt J, Dröge C, Sattler K, Stross C, Kluge S, Herebian D, Smits SHJ, Burdelski M, Schulz-Jürgensen S, Ballauff A, Schulte Am Esch J, Mayatepek E, Häussinger D, Kubitz R, Schmitt L.
    World J Gastroenterol; 2017 Aug 07; 23(29):5295-5303. PubMed ID: 28839429
    [Abstract] [Full Text] [Related]

  • 14. FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
    van Mil SW, Klomp LW, Bull LN, Houwen RH.
    Semin Liver Dis; 2001 Nov 07; 21(4):535-44. PubMed ID: 11745041
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 15; 45(8):585-592. PubMed ID: 34942279
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 51(5):1645-55. PubMed ID: 20232290
    [Abstract] [Full Text] [Related]

  • 18. Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis.
    Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider BL, Childhood Liver Disease Research Network (ChiLDReN).
    Hepatology; 2017 May 15; 65(5):1645-1654. PubMed ID: 28027587
    [Abstract] [Full Text] [Related]

  • 19. Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
    Yang Y, Zhang J, Li LT, Qiu YL, Gong JY, Zhang MH, Li CH, Wang JS.
    J Mol Diagn; 2021 Nov 15; 23(11):1491-1499. PubMed ID: 34543749
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 10(12):e0145021. PubMed ID: 26678486
    [Abstract] [Full Text] [Related]

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