T Kroll, M Prescher, SHJ Smits, L Schmitt - Chemical reviews, 2020 - ACS Publications
The liver is beyond any doubt the most important metabolic organ of the human body. This function requires an intensive crosstalk within liver cellular structures, but also with other …
JM Stapelbroek, KJ van Erpecum, LWJ Klomp… - Journal of …, 2010 - Elsevier
Bile formation at the canalicular membrane is a delicate process. This is illustrated by inherited liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and …
DBE van Wessel, RJ Thompson, E Gonzales… - …, 2021 - Wiley Online Library
Background and Aims Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial …
SB Schatz, C Jüngst, V Keitel‐Anselmo… - Hepatology …, 2018 - Wiley Online Library
Genetic variants in the adenosine triphosphate‐binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to …
S Alam, BB Lal - World Journal of Hepatology, 2022 - ncbi.nlm.nih.gov
Recent evidence points towards the role of genotype to understand the phenotype, predict the natural course and long term outcome of patients with progressive familial intrahepatic …
A Mehl, H Bohorquez, MS Serrano… - World Journal of …, 2016 - ncbi.nlm.nih.gov
Progressive familial intrahepatic cholestasis (PFIC) is a constellation of inherited disorders that result in the impairment of bile flow through the liver that predominantly affects children …
R Kubitz, C Dröge, S Kluge, C Stross, N Walter… - Clinical reviews in …, 2015 - Springer
Severe cholestasis may result in end-stage liver disease with the need of liver transplantation (LTX). In children, about 10% of LTX are necessary because of cholestatic …
K Oishi, R Arnon, MP Wasserstein… - Pediatric …, 2016 - Wiley Online Library
LT is an effective therapeutic option for a variety of IEM. This approach can significantly improve the quality of life of patients who suffer from severe disease manifestations and/or …
A Miyagawa‐Hayashino, H Egawa… - Liver …, 2009 - Wiley Online Library
We studied histological features and long‐term outcomes in patients with progressive familial intrahepatic cholestasis type 1 (PFIC1) after liver transplantation (LT). Histological …