Associated Papers
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Sharabati I et al.
Annals of Medicine and Surgery (2012), 2025
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E et al.
Jhep Reports : Innovation in Hepatology, 2023
A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.
Biyoukar M et al.
Jhep Reports : Innovation in Hepatology, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Nayagam JS et al.
Alimentary Pharmacology & Therapeutics, 2020
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
Liver diseases related to MDR3 (ABCB4) gene deficiency.
Gonzales E et al.
Frontiers in Bioscience (landmark Edition), 2009
The molecular genetics of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Obstetric Medicine, 2008
Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.
Wasmuth HE et al.
Gut, 2007
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
Floreani A et al.
Alimentary Pharmacology & Therapeutics, 2006
Association of single nucleotide polymorphisms of the bile salt export pump gene with intrahepatic cholestasis of pregnancy.
Eloranta ML et al.
Scandinavian Journal of Gastroenterology, 2003
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.
Müllenbach R et al.
Journal of Medical Genetics, 2003
Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.
Eloranta ML et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2002
Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.
Eloranta ML et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2002
Intrahepatic cholestasis of pregnancy: molecular pathogenesis, diagnosis and management.
Lammert F et al.
Journal of Hepatology, 2000
An inventory of the human ABC proteins.
Klein I et al.
Biochimica Et Biophysica Acta, 1999
Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy.
Jacquemin E et al.
Lancet (london, England), 1999
MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: an update.
Mbongo-Kama E et al.
Annals of Hepatology, 0