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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: sturm 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
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M. de Vree JM, et al. Among authors: sturm e. Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):282-7. doi: 10.1073/pnas.95.1.282. Proc Natl Acad Sci U S A. 1998. PMID: 9419367 Free PMC article.
[Two sisters with progressive familial intrahepatic cholestasis].
Wachters-Hagedoorn RE, Porte RJ, Gouw AS, Bijleveld CM, Verkade HJ, Sturm E. Wachters-Hagedoorn RE, et al. Among authors: sturm e. Ned Tijdschr Geneeskd. 2004 Sep 4;148(36):1788-92. Ned Tijdschr Geneeskd. 2004. PMID: 15495944 Dutch.
Cholestasis: current issues and plan for the future.
Haber B, Ferreira CT, Aw M, Bezerra J, Sturm E, Thompson R, D'Agostino D, McKiernan P; Cholestasis Working Group. Haber B, et al. Among authors: sturm e. J Pediatr Gastroenterol Nutr. 2008 Aug;47(2):220-4. doi: 10.1097/MPG.0b013e318181b038. J Pediatr Gastroenterol Nutr. 2008. PMID: 18664879 No abstract available.
302 results