Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation

Functional rescue of an ABCB11 mutant by ivacaftor: a new targeted pharmacotherapy approach in bile salt export pump deficiency

(2020) Elodie Mareux et al.   LIVER INTERNATIONAL

Liver-directed gene therapy results in long term correction of progressive familial intrahepatic cholestasis type 3 in mice

(2019) Sem J. Aronson et al.   JOURNAL OF HEPATOLOGY

Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model

(2019) Nicholas D. Weber et al.   Nature Communications

Progressive Familial Intrahepatic Cholestasis

(2018) Laura N. Bull et al.   Clinics in Liver Disease

Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770)

(2016) Jean-Louis Delaunay et al.   HEPATOLOGY

Biliary atresia and other cholestatic childhood diseases: Advances and future challenges

(2016) Henkjan J. Verkade et al.   JOURNAL OF HEPATOLOGY

Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3

(2016) Hyo Jin Park et al.   Scientific Reports

Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones

(2016) Raquel Gordo-Gilart et al.   PLoS One

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate

(2015) Emmanuel Gonzales et al.   HEPATOLOGY

New paradigms in the treatment of hepatic cholestasis: From UDCA to FXR, PXR and beyond

(2015) Ulrich Beuers et al.   JOURNAL OF HEPATOLOGY

Autoimmune BSEP Disease: Disease Recurrence After Liver Transplantation for Progressive Familial Intrahepatic Cholestasis

(2014) Ralf Kubitz et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Functional analysis ofABCB4mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity

(2014) Raquel Gordo-Gilart et al.   GUT

The Genetics of Complex Cholestatic Disorders

(2013) Gideon M. Hirschfield et al.   GASTROENTEROLOGY

Progressive Familial Intrahepatic Cholestasis Type 3

(2012) Ramya Ramraj et al.   CLINICAL PEDIATRICS

Cholestatic Liver Diseases from Child to Adult: The Diversity of MDR3 Disease

(2011) R. Kubitz et al.   ZEITSCHRIFT FUR GASTROENTEROLOGIE

Liver disease associated with canalicular transport defects: Current and future therapies

(2009) Janneke M. Stapelbroek et al.   JOURNAL OF HEPATOLOGY

Progressive familial intrahepatic cholestasis

(2009) Anne Davit-Spraul et al.   Orphanet Journal of Rare Diseases

Structural insights into ABC transporter mechanism

(2008) Michael L Oldham et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY