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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. Felzen A, et al. Among authors: lipinski p. JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb. JHEP Rep. 2022. PMID: 36687469 Free PMC article.
Cortisol deficiency as a rare cause of neonatal cholestasis.
Lipiński P, Kot K, Jankowska I, Szalecki M. Lipiński P, et al. Dev Period Med. 2018;22(3):280-283. doi: 10.34763/devperiodmed.20182203.280283. Dev Period Med. 2018. PMID: 30281525 Free PMC article. Review. English.
[Progressive familial intrahepatic cholestasis type 3].
Lipiński P, Jankowska I. Lipiński P, et al. Dev Period Med. 2018;22(4):385-389. doi: 10.34763/devperiodmed.20182204.385389. Dev Period Med. 2018. PMID: 30636238 Free PMC article. Review. Polish.
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: lipinski p. 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
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Jankowska I, Czubkowski P, Rokicki D, Lipiński P, Piekutowska-Abramczuk D, Ciara E, Płoski R, Kaliciński P, Szymczak M, Pawłowska J, Socha P. Jankowska I, et al. Among authors: lipinski p. Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101408. doi: 10.1016/j.clinre.2020.02.018. Epub 2020 Apr 8. Clin Res Hepatol Gastroenterol. 2021. PMID: 32278775 Review.
183 results