Article
Genotype correlates with the natural history of severe bile salt export pump deficiency.
Journal of hepatology - 1 Jul 2020
van Wessel Daan B E, Thompson Richard J, Gonzales Emmanuel, Jankowska Irena, Sokal Etienne, Grammatikopoulos Tassos, Kadaristiana Agustina, Jacquemin Emmanuel, Spraul Anne, Lipiński Patryk, Czubkowski Piotr, Rock Nathalie, Shagrani Mohammad, Broering Dieter, Algoufi Talal, Mazhar Nejat, Nicastro Emanuele, Kelly Deirdre A, Nebbia Gabriella, Arnell Henrik, Björn Fischler, Hulscher Jan B F, Serranti Daniele, Arikan Cigdem, Polat Esra, Debray Dominique, Lacaille Florence, Goncalves Cristina, Hierro Loreto, Muñoz Bartolo Gema, Mozer-Glassberg Yael, Azaz Amer, Brecelj Jernej, Dezsőfi Antal, Calvo Pier Luigi, Grabhorn Enke, Sturm Ekkehard, van der Woerd Wendy J, Kamath Binita M, Wang Jian-She, Li Liting, Durmaz Özlem, Onal Zerrin, Bunt Ton M G, Hansen Bettina E, Verkade Henkjan J
Abstract excerpt
BACKGROUND & AIMS: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes following surgical biliary diversion (SBD), remain elusive. We aimed to determine these associations by assembling the largest genetically defined cohort of...
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