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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. van Wessel DBE, et al. Among authors: gonzales e. J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20. J Hepatol. 2020. PMID: 32087350
Progressive familial intrahepatic cholestasis.
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Davit-Spraul A, et al. Among authors: gonzales e. Orphanet J Rare Dis. 2009 Jan 8;4:1. doi: 10.1186/1750-1172-4-1. Orphanet J Rare Dis. 2009. PMID: 19133130 Free PMC article. Review.
Liver diseases related to MDR3 (ABCB4) gene deficiency.
Gonzales E, Davit-Spraul A, Baussan C, Buffet C, Maurice M, Jacquemin E. Gonzales E, et al. Front Biosci (Landmark Ed). 2009 Jan 1;14(11):4242-56. doi: 10.2741/3526. Front Biosci (Landmark Ed). 2009. PMID: 19273348 Free article. Review.
554 results