A colestase intra-hepática familiar progressiva tipo 3 (PFIC3), um tipo de colestase intra-hepática familiar progressiva (PFIC), é um distúrbio hereditário de início tardio na formação da bile de origem hepatocelular. O início pode ocorrer desde a infância até a idade adulta jovem.
Introdução
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A colestase intra-hepática familiar progressiva tipo 3 (PFIC3), um tipo de colestase intra-hepática familiar progressiva (PFIC), é um distúrbio hereditário de início tardio na formação da bile de origem hepatocelular. O início pode ocorrer desde a infância até a idade adulta jovem.
Escala de raridade
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1/10kPouco freq.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity o
Cell membraneApical cell membraneMembrane raftCytoplasmCytoplasmic vesicle, clathrin-coated vesicle
Cholestasis, progressive familial intrahepatic, 3
A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC3 inheritance is autosomal recessive.
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:17948906, PubMed:25315773). May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity). Thus may have a role in the regulation of bile acids transpo
Cell membraneApical cell membraneCell projection, stereociliumEndoplasmic reticulumGolgi apparatus
Cholestasis, progressive familial intrahepatic, 1
A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive.
Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:15791618, PubMed:16332456, PubMed:18985798, PubMed:19228692, PubMed:20010382, PubMed:20398791, PubMed:22262466, PubMed:24711118, Pub
Apical cell membraneRecycling endosome membraneEndosomeCell membrane
Cholestasis, progressive familial intrahepatic, 2
A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
273 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 165 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Colestase intra-hepática progressiva familiar tipo 3
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Publicações mais relevantes
Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort.
Progressive familial intrahepatic cholestasis type 3, caused by mutations in the ABCB4 gene, is a rare genetic disorder. Although severe phenotypes due to biallelic mutations are well described, emerging data seem to suggest the clinical relevance of monoallelic variants. To describe the clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children in a cohort of North Indian children. This is a retrospective analysis of a prospectively maintained database from a single tertiary care centre. Children (≤ 18 years) with ABCB4 mutations between January 2021 and March 2025 were analysed. The clinical presentation, laboratory investigations, genetic sequencing and outcomes were recorded. Patients were stratified into group 1 (homozygous/compound heterozygous) and group 2 (heterozygous). Variant pathogenicity was assessed using the American College of Medical Genetics guidelines and available predictive tools. Of the 26 patients, 16 had biallelic mutations, and 10 had monoallelic mutations. Group 1 exhibited higher rates of positive family history (75% vs 30%, P = 0.04), ascites (43.2% vs 0%, P = 0.02), larger varices (40% vs 0%, P = 0.009), higher gamma glutamyl transferase levels (171 U/L vs 38 U/L, P = 0.007), and lower platelet counts (162 × 109/L vs 415 × 109/L, P = 0.007). Notably, two-thirds of patients in group 1 experienced disease progression, and one-third died during follow-up. Certain missense variants (e.g., c.2860T>C) and all nonsense variants were linked to rapid deterioration. Most children in group 2 had transient cholestasis with a good outcome, but two older children succumbed. Mutations in the ABCB4 gene contribute significantly to pediatric chronic liver disease. Patients with severe biallelic mutations frequently experience a progressive disease course, whereas those with monoallelic mutations may progress slowly. Genetic testing for ABCB4 should be considered in children with cryptogenic chronic liver disease, especially those with high gamma-glutamyltransferase cholestasis and portal hypertension.
Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
ABCB4 is expressed at the canalicular membrane of hepatocytes and is responsible for the secretion of phosphatidylcholine into bile. Genetic variations of ABCB4 are associated with rare cholestatic liver diseases, the most severe being progressive familial intrahepatic cholestasis type 3, for which most of patients require liver transplantation before adulthood. Therefore, the development of alternative pharmacotherapies is urgently needed. We have previously shown that structural analogues of roscovitine rescue the maturation, localisation and indirectly the function of class II intracellularly-retained ABCB4 variants. Nevertheless, in order to develop molecules with better benefit/toxicity ratios, new structural analogues of roscovitine were tested in cell models as potential correctors of three class II ABCB4 variants. We show here that nine roscovitine analogues are able to significantly rescue the maturation and canalicular localisation of these ABCB4 variants. Three of these analogues were also able to partially restore the transporter-mediated activity of ABCB4 variants, while being less inhibitory of wild type ABCB4 function than roscovitine itself. In addition, ensemble docking calculations suggest that the selected roscovitine analogues may directly interact with wild type or mutated ABCB4. Our results represent a new step towards the identification of pharmacological correctors for ER-retained variants of the ABCB4 transporter.
A Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report.
Background: Progressive familial intrahepatic cholestasis (PFIC) describes a group of genetically heterogeneous disorders. Several mutations in the ATP-Binding Cassette Subfamily B Member 4 (ABCB4) gene have been confirmed to cause reduced phosphatidylcholine levels in bile, leading to a deficiency of biliary vesicles and instability of mixed in micelles. The disease spectrum ranges from PFIC type 3 (PFIC3) to milder conditions. Herein, we present a rare case of PFIC3 in a young woman, emphasizing the importance of early detection and management. Methods: The patient was diagnosed using next-generation sequencing, with genetic testing and analysis performed by the Chengdu Hua Chuang Testing Institute. Variant pathogenicity was evaluated according to the American College of Medical Genetics and Genomics guidelines and classified into five categories: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. Nomenclature was assigned following the Human Genome Variation Society standards. Results: Contrast-enhanced abdominal computed tomography demonstrated liver cirrhosis with marked splenomegaly. Histological examination of liver biopsy specimens using hematoxylin and eosin and Masson staining further confirmed cirrhotic changes. Genetic testing was subsequently performed and revealed a likely pathogenic variant, c.2757T > A (p. Tyr919Ter), in exon 22 of the ABCB4 gene, which was also detected in the patient's mother but absent in her father. Finally, PFIC3 was diagnosed. Following initiation of ursodeoxycholic acid therapy, the patient showed moderate improvement in liver function tests, underscoring a clinical case with therapeutic implications. Conclusions: Molecular genetic analyses of ABCB4 are essential for the accurate diagnosis of PFIC3. Clinicians should consider cholestatic liver diseases, particularly PFIC, as a differential diagnosis in cases of liver cirrhosis with unknown etiology, especially in young patients who lack prior symptoms or a family history of liver disease.
Diagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disorder caused by biallelic mutations in the ABCB4 gene, leading to multidrug resistance protein 3 (MDR3) deficiency. PFIC3 often presents with clinical and biochemical features that overlap with Wilson's disease (WD), including hepatic copper accumulation and elevated urinary copper excretion. These similarities contribute to frequent misdiagnosis, resulting in inappropriate chelation therapy and delayed appropriate management. This systematic review examines reported cases of PFIC3 initially misdiagnosed as WD to highlight diagnostic challenges and assess patient outcomes. A comprehensive search across PubMed, ScienceDirect and Google Scholar identified 11 eligible studies involving 16 patients. Most cases were first treated as WD, receiving chelation therapy without clinical improvement. Diagnosis was later revised to PFIC3 following negative ATP7B mutation testing and identification of ABCB4 variants, often via whole-genome sequencing. Upon switching to ursodeoxycholic acid (UDCA), most patients experienced clinical stabilization. The findings underscore the need for heightened awareness of PFIC3 as a differential diagnosis in atypical WD cases, especially when ceruloplasmin is normal and Kayser-Fleischer (KF) rings are absent. Early genetic testing is essential to avoid mismanagement. Further observational studies are warranted to estimate misdiagnosis frequency and guide diagnostic protocols.
Lifesaving re-transplantation with liver paired exchange donor.
Liver re-transplantations (re-LTx) have been documented as high-risk operations considering technical and immunological challenges. However, improvements over the last two decades have increased success rates, bringing them closer to those of primary liver transplantations (LTx). At present, deceased organ shortage is a critical issue, and even potential live donors may not be suitable regarding vascular and biliary challenges, volume discrepancies, and ABO incompatibility for both primary and re-LTx. The hospital records of a patient who underwent two liver transplantations in our institution were evaluated retrospectively. A twelve-year-old girl with Progressive Familial Intrahepatic Cholestasis Type 3 underwent live-donor LTx with a graft from her mother. The patient required emergency re-LTx due to primary non-function of the graft, and there were no suitable deceased or live donors during that critical period. The patient was introduced to the liver paired exchange system and underwent a lifesaving re-LTx from an altruistic paired exchange donor. As a developing strategy, liver paired exchange transplantation is a reasonable solution to achieve the most suitable liver graft when it is most needed, especially in populations with very low deceased organ donation rates. There is a need for large studies to analyze the role and success of liver paired exchange transplantation in pediatric patients in urgent and elective situations.
Publicações recentes
Bile acid detergency as determinant of liver pathology in a humanized mouse model of progressive familial intrahepatic cholestasis type 3.
Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort.
A Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report.
Diagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.
📚 EuropePMC50 artigos no totalmostrando 79
Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
Scientific reportsClinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort.
World journal of hepatologyA Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report.
Journal of clinical medicineDiagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.
Advances in clinical and experimental medicine : official organ Wroclaw Medical UniversityABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators.
Scientific reportsLifesaving re-transplantation with liver paired exchange donor.
Hepatology forumComprehensive overview of progressive familial intrahepatic cholestasis type 3 and the importance of pruritus as a diagnostic clue.
BMJ case reportsClinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation.
Orphanet journal of rare diseasesNovel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Annals of medicine and surgery (2012)From chelation to transplantation: lessons from a progressive familial intrahepatic cholestasis type 3 case initially managed as Wilson's disease.
Gastroenterology reportA Case of Progressive Familial Intrahepatic Cholestasis Type-3.
CureusA novel genetic variant associated with progressive familial intrahepatic cholestasis type 3: A case series.
JPGN reports[Clinical characteristics of ABCB4 gene variant-associated cholestatic liver disease in adults].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyIdentification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Scientific reports"Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene".
Clinics and research in hepatology and gastroenterologyIdentification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.
Communications biology[Clinical phenotype and genotype analysis of progressive familial intrahepatic cholestasis type 3 caused by novel ABCB4 gene mutation].
Zhonghua er ke za zhi = Chinese journal of pediatricsMagnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3.
Radiologie (Heidelberg, Germany)[Analysis of clinical characteristic of children with progressive familial intrahepatic cholestasis type 3].
Zhonghua er ke za zhi = Chinese journal of pediatricsClinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Orphanet journal of rare diseasesMolecular Insights of Cholestasis in MDR2 Knockout Murine Liver Organoids.
Journal of proteome researchSerum 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.
Journal of clinical psychopharmacologyHepatic artery vasospasm masquerading as early hepatic artery thrombosis in progressive familial intrahepatic cholestasis 3: a case report.
Clinical transplantation and researchChallenges faced in establishing a pediatric liver transplant program in a lower-middle-income country with free healthcare service.
Pediatric transplantationMolecular basis of progressive familial intrahepatic cholestasis 3. A proteomics study.
BioFactors (Oxford, England)[A case of progressive familial intrahepatic cholestasis (type 3) as an initial manifestation of cirrhosis-related gastrointestinal bleeding].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyA novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.
Molecular genetics & genomic medicineOutcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
JHEP reports : innovation in hepatologyABCB4 gene mutation-associated cirrhosis with systemic amyloidosis: A case report.
World journal of clinical casesVariable Intrafamilial Expression of ABCB4 Disease.
ACG case reports journalA 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.
BMC medical genomics[Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyRescue of infant progressive familial intrahepatic cholestasis type 3 mice by repeated dosing of AAV gene therapy.
JHEP reports : innovation in hepatologyIvacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.
International journal of molecular sciencesProgressive 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.
CureusCase series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China.
Frontiers in medicineClinical 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.
Orphanet journal of rare diseasesCase Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4.
Frontiers in pediatricsNovel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report.
World journal of clinical casesABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
Digestive diseases and sciencesMRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression.
CellsProgressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
Annals of hepatologyEffect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Liver international : official journal of the International Association for the Study of the LiverSynthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.
Journal of hepatologyCase report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.
BMC medical geneticsCarriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Liver international : official journal of the International Association for the Study of the LiverEvaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
Disease markersVariants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Journal of hepatologyNovel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report.
Diagnostic pathologyA novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
Journal of pediatric endocrinology & metabolism : JPEMGene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model.
Nature communicationsABCB4 disease: Many faces of one gene deficiency.
Annals of hepatologyABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaProgressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity.
Annals of clinical and translational neurologyDiagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
The Journal of pediatricsPersistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report.
MedicinePrevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy.
Hepatology (Baltimore, Md.)Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.
MedicineStructural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models.
Scientific reportsLiver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice.
Journal of hepatologyABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine.
Biological chemistry[Clinical and pathological features of inherited metabolic liver disease in adults].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology[Progressive familial intrahepatic cholestasis type 3].
Developmental period medicineDuctopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.
World journal of gastroenterologyABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Seminars in liver disease[Clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPhenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.
Clinica chimica acta; international journal of clinical chemistryLiver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3: A case report.
MedicineA New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.
European journal of case reports in internal medicineChronic Pruritus in an 18-Month-Old Male Infant Due to Anicteric Cholestasis.
Journal of tropical pediatricsFunctional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Hepatology (Baltimore, Md.)In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Computational biology and chemistryFunctional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Scientific reportsMolecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicalsA functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Hepatology (Baltimore, Md.)Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.
Pediatric gastroenterology, hepatology & nutritionABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Journal of gastroenterologyReversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3.
Annals of hepatologyNovel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
World journal of gastroenterologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort.
- Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
- A Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report.
- Diagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.Advances in clinical and experimental medicine : official organ Wroclaw Medical University· 2026· PMID 41566726mais citado
- Lifesaving re-transplantation with liver paired exchange donor.
- Bile acid detergency as determinant of liver pathology in a humanized mouse model of progressive familial intrahepatic cholestasis type 3.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79305(Orphanet)
- OMIM OMIM:602347(OMIM)
- MONDO:0011214(MONDO)
- GARD:1289(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q60195067(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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