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
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
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
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Dong C et al.
Jhep Reports : Innovation in Hepatology, 2021
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
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Oude Elferink RP et al.
Pflugers Archiv : European Journal of Physiology, 2007
[Diagnosis of cholestatic disorders].
Geier A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy.
Gendrot C et al.
Journal of Medical Genetics, 2003
The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Jacquemin E et al.
Gastroenterology, 2001
Cholestatic Liver Disease due to Novel USP53 Mutations: A Case Series of Three Indian Children.
Samanta A et al.
Journal of Clinical and Experimental Hepatology, 0