Associated Papers
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
Successful Use of Bortezomib for Recurrent Progressive Familial Intrahepatic Cholestasis Type II After Liver Transplantation: A Pediatric Case with a 9-Year Follow-Up.
Bak YG et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2024
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A et al.
Jhep Reports : Innovation in Hepatology, 2023
36687469 (PubMed )
Supplement: mmc1.pdf
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 2022
Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases.
Namgoong JM et al.
Annals of Hepato-biliary-pancreatic Surgery, 2022
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
Jeyaraj R et al.
Genes, 2021
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.
Liu LY et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2010
Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
Grotra R et al.
Journal of Clinical and Experimental Hepatology, 0
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