Associated Papers
Odevixibat after liver transplant in patients with progressive familial intrahepatic cholestasis type 1: A case series.
Vogel GF et al.
Journal of Pediatric Gastroenterology and Nutrition, 2025
Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes.
Sahloul A et al.
Frontiers in Surgery, 2023
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE et al.
Hepatology (baltimore, Md.), 2021
33666275 (PubMed )
Supplement: HEP-74-892-s001.pdf
A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant.
Jankowska I et al.
The American Journal of Case Reports, 2021
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency.
Squires JE et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
van der Woerd WL et al.
Hepatology (baltimore, Md.), 2015
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
Schneider G et al.
Hepatology (baltimore, Md.), 2007
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Müllenbach R et al.
Gut, 2005
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004
Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.
Lykavieris P et al.
Journal of Hepatology, 2003
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