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
Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.
Kato K et al.
Journal of Clinical Medicine, 2023
Optimal liver transplant procedure in progressive familial intrahepatic cholestasis type 1 treated with biliary diversion or intestinal transplantation: Lessons learned from three cases treated with different approaches.
Uchida H et al.
Pediatric Transplantation, 2023
Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience.
Henkel SAF et al.
Pediatric Transplantation, 2021
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
Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Mizutani A et al.
Hepatology Communications, 2021
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
Hayashi H et al.
Ebiomedicine, 2018
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
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
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
Liu LY et al.
Journal of Pediatric Gastroenterology and Nutrition, 2010
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004