Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2
Author:
Funder
AMFE
Publisher
Elsevier BV
Subject
Hepatology
Reference15 articles.
1. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history;Davit-Spraul;Hepatology,2010
2. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II;Wang;J Clin Invest,2002
3. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases;Lam;Am J Physiol Cell Physiol,2007
4. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps;Hayashi;Hepatology,2007
5. Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II;Wang;Hepatology,2008
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