Research By Disease – CheckOrphan

Disease: Progressive Familial Intrahepatic Cholestasis 3

ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis: A case report
A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies
A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies
A case of progressive familial intrahepatic cholestasis (type 3) as an initial manifestation of cirrhosis-related gastrointestinal bleeding
A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report
A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus
A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review
A Rare Case of Progressive Familial Intrahepatic Cholestasis Type 4: A Case Report and Literature Review
ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease
ABO-incompatible Pediatric Liver Transplantation With Antibody and B-cell Depletion-free Immunosuppressive Protocol in High Consanguinity Communities
Analysis of clinical characteristic of children with progressive familial intrahepatic cholestasis type 3
Analysis of clinical characteristic of pediatric with progressive familial intrahepatic cholestasis type 3
Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders
Case Report: A Novel Single Variant TJP2 Mutation in a Case of Benign Recurrent Intrahepatic Cholestasis
Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4
Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4
Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis
Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China
Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China
Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency
Challenges faced in establishing a pediatric liver transplant program in a lower-middle-income country with free healthcare service
Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3
Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults
Clinical outcomes of surgical management for rare types of progressive familial intrahepatic cholestasis: a case series
Clinical phenotype and genotype analysis of progressive familial intrahepatic cholestasis type 3 caused by novel ABCB4 gene mutation
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2
Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and Transient Neonatal Cholestasis in an Infant
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases
Costs of pediatric liver transplantation among commercially insured and Medicaid-insured patients with cholestasis in the US
Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis
Emerging drugs for the treatment of progressive familial intrahepatic cholestasis: a focus on phase II and III trials
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
Graft outflow vein venoplasty for a laparoscopically harvested left lateral section graft in pediatric living donor liver transplantation
Hepatic artery vasospasm masquerading as early hepatic artery thrombosis in progressive familial intrahepatic cholestasis 3: a case report
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort
Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach
Ileal bypass for pruritus relief in a 3-year-old boy with advanced progressive familial intrahepatic cholestasis: how effective is it?
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study
Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases
Liver Transplantation for Hepatocellular Carcinoma in Patients with Inherited Metabolic Liver Diseases: A Single-Center Analysis
Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases
Living donor liver transplantation in an infant patient with progressive familial intrahepatic cholestasis along with hepatocellular carcinoma: a case report
Magnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3
Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis
Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment
Molecular basis of progressive familial intrahepatic cholestasis 3. A proteomics study
Molecular Insights of Cholestasis in MDR2 Knockout Murine Liver Organoids
MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression
Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver
Newer variants of progressive familial intrahepatic cholestasis
Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report
Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series
Odevixibat (Bylvay): CADTH Reimbursement Recommendation: Indication: The treatment of pruritus in patients aged 6 months or older with progressive familial intrahepatic cholestasis
Odevixibat as an adjunctive treatment for refractory pruritus in rare variants of cholestatic liver disease
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial
Odevixibat: A Novel Bile Salt Inhibitor Treatment for Pruritus in Progressive Familial Intrahepatic Cholestasis
Odevixibat: a promising new treatment for progressive familial intrahepatic cholestasis
Odevixibat: A Review of a Bioactive Compound for the Treatment of Pruritus Approved by the FDA
Optimal liver transplant procedure in progressive familial intrahepatic cholestasis type 1 treated with biliary diversion or intestinal transplantation: Lessons learned from three cases treated with different approaches
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy
Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis
Overview of Progressive Familial Intrahepatic Cholestasis
Parental liver transplantation for treating progressive familial intrahepatic cholestasis: A rare case report
Parental liver transplantation for treating progressive familial intrahepatic cholestasis: Report of a rare case
Pediatric split liver transplantation using a hyperreduced left lateral segment graft in an infant weighing 4 kg
Plasma Concentration of Antifungal Agent Micafungin for Pediatric Living Donor Liver Transplantation
Portal Hypertension in Children: A Tertiary Center Experience in Turkey
Progressive Familial Intrahepatic Cholestasis
Progressive Familial Intrahepatic Cholestasis
Progressive Familial Intrahepatic Cholestasis Type 2 and Recurrence After Liver Transplantation: A Case Report
Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes
Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center
Progressive Familial Intrahepatic Cholestasis: A Study in Children From a Liver Transplant Center in India
Questioning Diagnostic Value of Serum Matrix Metalloproteinase 7 for Biliary Atresia
Re-evaluation of Laparoscopic Hepatic Subcapsular Spider-Like Telangiectasis Sign: A Highly Accurate Method to Diagnose Biliary Atresia in Infants
Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies
Rescue of infant progressive familial intrahepatic cholestasis type 3 mice by repeated dosing of AAV gene therapy
Serum Bile Acid Profiling and Mixed Model Analysis Reveal Biomarkers Associated with Pruritus Reduction in Maralixibat-Treated Patients with BSEP Deficiency
Serum Transaminase Monitoring and Successful Treatment of ADHD With Dextroamphetamine in a Patient With Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report and Literature Review
Seventeen Years of Pediatric Liver Transplantation Experience for Cirrhosis and Hepatocellular Carcinoma
Single-center experience in management of progressive familial intrahepatic cholestasis
Surgical versus Medical Management of Progressive Familial Intrahepatic Cholestasis-Case Compilation and Review of the Literature
The Covert Surge: Murine Bile Acid Levels Are Associated With Pruritus in Pediatric Autoimmune Sclerosing Cholangitis
The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing
The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
Thioredoxin reductase 1 regulates hepatic inflammation and macrophage activation during acute cholestatic liver injury
Transplanting Livers in Young Children - Looking Back at 100 Cases
Transporter Proteins as Therapeutic Drug Targets-With a Focus on SGLT2 Inhibitors
Type 3 of progressive familial intrahepatic cholestasis (PFIC-3): Case report
Validation of the PRUCISION Instruments in Pediatric Patients with Progressive Familial Intrahepatic Cholestasis
Variable Intrafamilial Expression of ABCB4 Disease
Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3