Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report

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 intrahepatic cholestasis and homozygous mutation in NR1H...

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Detalhes bibliográficos
Publicado no:World J Clin Cases
Main Authors: Czubkowski, Piotr, Thompson, Richard J, Jankowska, Irena, Knisely, A S, Finegold, Milton, Parsons, Pamela, Cielecka-Kuszyk, Joanna, Strautnieks, Sandra, Pawłowska, Joanna, Bull, Laura N
Formato: Artigo
Idioma:Inglês
Publicado em: Baishideng Publishing Group Inc 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8130085/
https://ncbi.nlm.nih.gov/pubmed/34046462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v9.i15.3631
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