Associated Papers
Spanish clinical practice guidelines for the diagnosis and management of cholestatic liver diseases in adult and pediatric population: Joint report from AEEH and SEGHNP.
Díaz-González Á et al.
Gastroenterologia Y Hepatologia, 2025
Odevixibat treatment reverses severe phenotype of PFIC in a young adult: A real-life experience beyond the genetic diagnosis.
Mandato C et al.
Jhep Reports : Innovation in Hepatology, 2025
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.
Choi S et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2025
A structural and mechanistic model for BSEP dysfunction in PFIC2 cholestatic disease.
Gruget C et al.
Communications Biology, 2025
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.
Vitale G et al.
Orphanet Journal of Rare Diseases, 2025
The effect of 4-phenylbutyrate and sodium 4-phenylbutyrate on genetic mutation diseases: A meta-analysis.
Tang W et al.
Medicine, 2025
Case Report: Genetic predisposition to low-dose NSAID-induced liver injury in real-world China.
Lyu Y et al.
Frontiers in Medicine, 2025
Hepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report.
Pimentel JM et al.
Clinical Transplantation and Research, 2024
Odevixibat as an adjunctive treatment for refractory pruritus in rare variants of cholestatic liver disease.
Goel A et al.
Jpgn Reports, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Intrahepatic cholestasis of pregnancy and theory of inheritance of the disease. Literature review.
Niemyjska-Dmoch W et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2023
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M et al.
Ebiomedicine, 2023
Influence of the Bile Acid Transporter Genes ABCB4, ABCB8, and ABCB11 and the Farnesoid X Receptor on the Response to Ursodeoxycholic Acid in Patients with Nonalcoholic Steatohepatitis.
Kreimeyer H et al.
Journal of Personalized Medicine, 2023
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
Iterative antibody-induced bile salt export pump deficiency after successive liver transplantations successfully treated with plasmapheresis and rituximab.
Wischlen E et al.
Clinics and Research in Hepatology and Gastroenterology, 2023
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Vitale G et al.
International Journal of Molecular Sciences, 2023
ABC transporters: human disease and pharmacotherapeutic potential.
Moore JM et al.
Trends in Molecular Medicine, 2023
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A et al.
Jhep Reports : Innovation in Hepatology, 2023
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS et al.
Hepatology Communications, 2022
Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
Hang C et al.
Journal of Clinical Medicine, 2022
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 2022
Clinical and Genetic Risk Factors for Drug-Induced Liver Injury Associated with Anti-Tuberculosis Treatment-A Study from Patients of Portuguese Health Centers.
Cavaco MJ et al.
Journal of Personalized Medicine, 2022
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez C et al.
Pharmaceutics, 2022
Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies.
Alam S et al.
World Journal of Hepatology, 2022
Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure.
Hoa NPA et al.
Medicine, 2022
Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Jüngst C et al.
Digestive Diseases (basel, Switzerland), 2022
The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.
Van Tung N et al.
Medicine, 2021
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
[Research on the relationship between V444A mutation of ABCB11 gene and primary intrahepatic stone].
Zheng CT et al.
Zhonghua Yi Xue Za Zhi, 2021
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.
Felzen A et al.
European Journal of Medical Genetics, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report.
Han Y et al.
Experimental and Therapeutic Medicine, 2021
The association of transporter ABCC2 (MRP2) genetic variation and drug-induced hyperbilirubinemia.
Huang YS et al.
Journal of the Chinese Medical Association : Jcma, 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Late response to rosuvastatin and statin-related myalgia due to SLCO1B1, SLCO1B3, ABCB11, and CYP3A5 variants in a patient with Familial Hypercholesterolemia: a case report.
Dagli-Hernandez C et al.
Annals of Translational Medicine, 2021
Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.
Akbulut UE et al.
Turkish Archives of Pediatrics, 2021
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Fonseca DJ et al.
Pharmacogenomics and Personalized Medicine, 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
Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis.
Slavetinsky C et al.
Bmj Case Reports, 2020
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.
Mitra S et al.
Fetal and Pediatric Pathology, 2020