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[期刊论文] 作者：Lara Neves Souza,Rodrigo Bronze de Martino,Richard Thompson,Sandra Strautnieks,Nigel D Heaton,Alberto,
来源：Hepatobiliary & Pancreatic Diseases International 年份：2015
According to the most recent WHO classification of hepatocellular adenomas,a small percentage of inflammatory hepatocellular adenomas presents with mutation in...
Progressive familial intrahepatic cholestasis—farnesoid X receptor deficiency due to NR1H4 mutation:
[期刊论文] 作者：Thompson,Irena Jankowska,A S Knisely,Milton Finegold,Pamela Parsons,Joanna Cielecka-Kuszyk,Sandra Strautnieks,
来源：世界临床病例杂志 年份：2021
BACKGROUND Functioning farnesoid X receptor(FXR;encoded by NR1H4)is key to normal bile acid homeostasis.Biallelic mutations in NR1H4 are reported in a few children with intrahepatic cholestasis.We describe a boy with progressive familial in......
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