https://scholars.lib.ntu.edu.tw/handle/123456789/595741
標題: | Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency | 作者: | van Wessel, Daan B E Thompson, Richard J Gonzales, Emmanuel Jankowska, Irena Shneider, Benjamin L 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 Nebbia, Gabriella Arnell, Henrik Fischler, Björn Hulscher, Jan B F Serranti, Daniele Arikan, Cigdem Debray, Dominique Lacaille, Florence Goncalves, Cristina Hierro, Loreto Muñoz Bartolo, Gema Mozer-Glassberg, Yael Azaz, Amer Brecelj, Jernej Dezsőfi, Antal Luigi Calvo, Pier Krebs-Schmitt, Dorothee Hartleif, Steffen van der Woerd, Wendy L Wang, Jian-She Li, Li-Ting Durmaz, Özlem Kerkar, Nanda Hørby Jørgensen, Marianne Fischer, Ryan Jimenez-Rivera, Carolina Alam, Seema Cananzi, Mara Laverdure, Noémie Targa Ferreira, Cristina Ordonez, Felipe Wang, Heng Sency, Valerie Mo Kim, Kyung HUEY-LING CHEN Carvalho, Elisa Fabre, Alexandre Quintero Bernabeu, Jesus Alonso, Estella M Sokol, Ronald J Suchy, Frederick J Loomes, Kathleen M McKiernan, Patrick J Rosenthal, Philip Turmelle, Yumirle Rao, Girish S Horslen, Simon Kamath, Binita M Rogalidou, Maria Karnsakul, Wikrom W Hansen, Bettina Verkade, Henkjan J |
關鍵字: | FAMILIAL INTRAHEPATIC CHOLESTASIS; SALT EXPORT PUMP; ABCB11 MUTATIONS; ATP8B1 GENE; TYPE-1; PFIC1; EXPRESSION; CHILDREN; DISEASE | 公開日期: | 2021 | 出版社: | WILEY | 卷: | 74 | 期: | 2 | 起(迄)頁: | 892 | 來源出版物: | Hepatology | 摘要: | Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/595741 | ISSN: | 0270-9139 1527-3350 |
DOI: | 10.1002/hep.31787 | SDG/關鍵字: | adult; adulthood; article; bile acid blood level; controlled study; female; frameshift mutation; gene deletion; genotype; heterozygosity; history; homozygosity; human; human tissue; liver; major clinical study; male; multicenter study; nonsense mutation; prognosis; prospective study; retrospective study; survival analysis; adolescent; blood; child; clinical trial; follow up; genetics; infant; intrahepatic bile duct; intrahepatic cholestasis; liver transplantation; mortality; preschool child; procedures; risk assessment; stop codon; treatment outcome; young adult; adenosine triphosphatase; ATP8B1 protein, human; bile acid; Adenosine Triphosphatases; Adolescent; Bile Acids and Salts; Bile Ducts, Intrahepatic; Child; Child, Preschool; Cholestasis, Intrahepatic; Codon, Nonsense; Female; Follow-Up Studies; Humans; Infant; Liver Transplantation; Male; Prognosis; Prospective Studies; Retrospective Studies; Risk Assessment; Survival Analysis; Treatment Outcome; Young Adult |
顯示於: | 醫學教育暨生醫倫理學科所 |
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