Disease: Progressive Familial Intrahepatic Cholestasis 4
- 3D-reconstruction and heterotopic implantation of reduced size monosegment or left lateral segment grafts in small infants: A new technique in pediatric living donor liver transplantation to overcome large-for-size syndrome
- A Current Understanding of Bile Acids in Chronic Liver Disease
- A Diagnostic Quagmire: PFIC5 Presenting as a Rare Cause of Neonatal Cholestasis
- 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 <em>ABCB4</em> Presenting with Intractable Pruritus
- A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
- ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall
- ABCB4 disease: Many faces of one gene deficiency
- ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease
- ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed
- ABO-incompatible Pediatric Liver Transplantation With Antibody and B-cell Depletion-free Immunosuppressive Protocol in High Consanguinity Communities
- Acute liver failure in children
- Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
- Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages
- ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes
- Atypical presentation and delayed diagnosis in a case of primary bile acid synthesis disorder
- Autoantibody formation against a canalicular epitope found in a patient with acute intrahepatic cholestasis with PFIC-like presentation
- Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders
- Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis
- Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma
- Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of <em>ABCB4</em>
- Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis
- Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation
- Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in <em>ABCB4</em> in China
- Childhood Cholestatic Liver Diseases that Persist Into Adulthood: Lessons for the Adult Gastroenterologist
- Cholestasis Due to USP53 Deficiency
- 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 outcomes of surgical management for rare types of progressive familial intrahepatic cholestasis: a case series
- Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1
- Clinical spectrum of chronic liver disease with final outcome in children at a tertiary centre: A single - centre study
- Clinicohistological correlation of etiological spectrum of chronic liver disease diagnosed during noncirrhotic stages in children: Can need of liver biopsy be obviated?
- Combination of Novel c.3484G> T/p.Glu162Ter Variant in <em>ABCB11</em> and c.208G> A/p.Asp70Asn Variant in <em>ATP8B1</em> Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis
- Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure
- Costs of pediatric liver transplantation among commercially insured and Medicaid-insured patients with cholestasis in the US
- Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing
- Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms
- Diaphragmatic Hernia after Pediatric Living Donor Liver Transplantation: An Indian Experience with Review of Literature
- Dual β-Catenin and γ-Catenin Loss in Hepatocytes Impacts Their Polarity through Altered Transforming Growth Factor-β and Hepatocyte Nuclear Factor 4α Signaling
- Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis
- Effects of odevixibat on pruritus and bile acids in children with cholestatic liver disease: Phase 2 study
- Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency
- Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study
- Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders
- Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis
- Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases
- Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases
- Long-term follow-up in children with progressive familial intrahepatic cholestasis type 2 after partial external biliary diversion with focus on histopathological features
- Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience
- Long-term outcome following cholecystocolostomy in 41 patients with progressive familial intrahepatic cholestasis
- Long-Term Outcomes of Patients With Progressive Familial Intrahepatic Cholestasis After Biliary Diversion
- Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis
- Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis
- Molecular overview of progressive familial intrahepatic cholestasis
- MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression
- MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype
- Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study
- New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report
- Newer variants of progressive familial intrahepatic cholestasis
- Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis
- Odevixibat Treatment of Alagille Syndrome: A Case Report
- Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis
- Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
- Partial Biliary Diversion May Promote Long-Term Relief of Pruritus and Native Liver Survival in Children with Cholestatic Liver Diseases
- Pediatric liver transplantation in Iran: evaluation of the first 50 cases
- Pediatric liver transplantation with hyperreduced left lateral segment graft
- Pediatric living-donor liver transplantation using right posterior segment grafts
- Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant
- Pediatric split liver transplantation using a hyperreduced left lateral segment graft in an infant weighing 4 kg
- Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study
- Portal vein reconstruction using side-to-side unification technique for infant-to-infant deceased donor whole liver transplantation
- Progressive familial intrahepatic cholestasis related to mutation of the TJP2 gene: recent advances
- 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: Report of four clinical cases, novel ABCB4 variants and long-term follow-up
- Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation
- 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
- Recent developments in diagnostics and treatment of neonatal cholestasis
- Role of Tacrolimus C/D Ratio in the First Year After Pediatric Liver Transplantation
- Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders
- Serum Bile Acid Profiling and Mixed Model Analysis Reveal Biomarkers Associated with Pruritus Reduction in Maralixibat-Treated Patients with BSEP Deficiency
- Seventeen Years of Pediatric Liver Transplantation Experience for Cirrhosis and Hepatocellular Carcinoma
- Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant
- Severe vitamin deficiencies in pregnancy complicated by progressive familial intrahepatic cholestasis
- Side-to-side portal vein reconstruction for infant-to-infant deceased donor whole liver transplantation: Report of 2 cases with video
- Single-center experience in management of progressive familial intrahepatic cholestasis
- Surgical diversion of enterohepatic circulation in pediatric cholestasis
- Surgical versus Medical Management of Progressive Familial Intrahepatic Cholestasis-Case Compilation and Review of the Literature
- Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation
- The Covert Surge: Murine Bile Acid Levels Are Associated With Pruritus in Pediatric Autoimmune Sclerosing Cholangitis
- The Largest Single Center Report on Pediatric Liver Transplantation: Experiences and Lessons Learned
- The zonula occludens protein family regulates the hepatic barrier system in the murine liver
- Transcriptional Control of <em>Trpm6</em> by the Nuclear Receptor FXR
- Transient hyperphosphatasemia following pediatric liver transplantation in a patient with hepatic and skeletal abnormalities
- Treatment with an ileal bile acid transporter inhibitor in patients with TJP2 deficiency
- Two Novel Pathogenic Variants of <em>TJP2</em> Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients
- Type 3 of progressive familial intrahepatic cholestasis (PFIC-3): Case report
- Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults
- Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3
- Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing