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Genotype correlates with the natural history of severe bile salt export pump deficiency

Autor: 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, Fischler, Björn, 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, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium

Publikováno v: Journal of hepatology, Vol. 73, No 1 (2020) pp. 84-93
Journal of Hepatology, 73(1), 84-93. ELSEVIER SCIENCE BV
Journal of Hepatology, (2020)
Journal of Hepatology, Vol. 73, no. 1, p. 84-93 (2020)

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 outcome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50798783ec26d8c845a4044822c8f3b