{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T10:48:57Z","timestamp":1792838937528,"version":"4.5.0"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T00:00:00Z","timestamp":1616025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annals of Hepatology"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1016\/j.aohep.2021.100342","type":"journal-article","created":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T19:56:24Z","timestamp":1616270184000},"page":"100342","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up"],"prefix":"10.1016","volume":"25","author":[{"given":"Patryk","family":"Lipi\u0144ski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Jurkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Wawrzynowicz-Syczewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Paw\u0142owska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Jankowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"July","key":"10.1016\/j.aohep.2021.100342_bib0145","first-page":"2313675","article-title":"New insights in genetic cholestasis: from molecular mechanisms to clinical implications","author":"Sticova","year":"2018","journal-title":"Can J Gastroenterol Hepatol"},{"key":"10.1016\/j.aohep.2021.100342_bib0150","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.cld.2018.06.003","article-title":"Progressive familial intrahepatic cholestasis","volume":"22","author":"Bull","year":"2018","journal-title":"Clin Liver Dis"},{"issue":"January (1)","key":"10.1016\/j.aohep.2021.100342_bib0155","article-title":"Progressive familial intrahepatic cholestasis","volume":"4","author":"Davit-Spraul","year":"2009","journal-title":"Orphanet J Rare Dis"},{"issue":"January (1)","key":"10.1016\/j.aohep.2021.100342_bib0160","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1073\/pnas.95.1.282","article-title":"Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis","volume":"95","author":"de Vree","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"May (6)","key":"10.1016\/j.aohep.2021.100342_bib0165","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1053\/gast.2001.23984","article-title":"The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood","volume":"120","author":"Jacquemin","year":"2001","journal-title":"Gastroenterology"},{"issue":"February (2)","key":"10.1016\/j.aohep.2021.100342_bib0170","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1111\/liv.12910","article-title":"Heterozygous ABCB4 mutations in children with cholestatic liver disease","volume":"36","author":"Gordo-Gilart","year":"2016","journal-title":"Liver Int"},{"issue":"September (3)","key":"10.1016\/j.aohep.2021.100342_bib0175","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1002\/hep.26424","article-title":"Genotype\u2013phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients","volume":"58","author":"Poupon","year":"2013","journal-title":"Hepatology"},{"issue":"May (5)","key":"10.1016\/j.aohep.2021.100342_bib0180","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/j.dld.2007.10.016","article-title":"Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy","volume":"40","author":"Floreani","year":"2008","journal-title":"Dig Liver Dis"},{"issue":"November (11)","key":"10.1016\/j.aohep.2021.100342_bib0185","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.dld.2013.04.002","article-title":"Prevalence of low phospholipid-associated cholelithiasis in young female patients","volume":"45","author":"Condat","year":"2013","journal-title":"Dig Liver Dis"},{"issue":"2","key":"10.1016\/j.aohep.2021.100342_bib0190","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000365003","article-title":"Alterations of canalicular ATP-binding cassette transporter expression in drug-induced liver injury","volume":"90","author":"Zollner","year":"2014","journal-title":"Digestion"},{"issue":"July","key":"10.1016\/j.aohep.2021.100342_bib0195","doi-asserted-by":"crossref","first-page":"414","DOI":"10.3389\/fped.2020.00414","article-title":"Targeted next-generation sequencing in diagnostic approach to monogenic cholestatic liver disorders-single-center experience","volume":"8","author":"Lipi\u0144ski","year":"2020","journal-title":"Front Pediatr"},{"key":"10.1016\/j.aohep.2021.100342_bib0200","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1016\/S0016-5085(99)70287-8","article-title":"Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis","volume":"117","author":"Jansen","year":"1999","journal-title":"Gastroenterology"},{"key":"10.1016\/j.aohep.2021.100342_bib0205","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1002\/hep.20682","article-title":"Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis","volume":"41","author":"Keitel","year":"2005","journal-title":"Hepatology"},{"key":"10.1016\/j.aohep.2021.100342_bib0210","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1016\/j.jhep.2017.07.004","article-title":"Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants","volume":"67","author":"Dr\u00f6ge","year":"2017","journal-title":"J Hepatol"},{"issue":"February (2)","key":"10.1016\/j.aohep.2021.100342_bib0215","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.dld.2015.11.002","article-title":"Elevation of gamma-glutamyl transferase in adult: should we think about progressive familiar intrahepatic cholestasis?","volume":"48","author":"Oliveira","year":"2016","journal-title":"Dig Liver Dis"},{"issue":"January (1)","key":"10.1016\/j.aohep.2021.100342_bib0220","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1097\/MPG.0b013e3181f50363","article-title":"Clinical features and genotype\u2013phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations","volume":"52","author":"Colombo","year":"2011","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.aohep.2021.100342_bib0225","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1002\/hep4.1149","article-title":"Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset","volume":"2","author":"Schatz","year":"2018","journal-title":"Hepatol Commun"},{"issue":"August (8)","key":"10.1016\/j.aohep.2021.100342_bib0230","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1007\/s00535-017-1423-1","article-title":"Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing","volume":"53","author":"Vitale","year":"2018","journal-title":"J Gastroenterol"},{"issue":"March (3)","key":"10.1016\/j.aohep.2021.100342_bib0235","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s00535-015-1110-z","article-title":"ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression","volume":"51","author":"Degiorgio","year":"2016","journal-title":"J Gastroenterol"},{"issue":"March (3)","key":"10.1016\/j.aohep.2021.100342_bib0240","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s00428-012-1202-6","article-title":"Aspects of liver pathology in adult patients with MDR3\/ABCB4 gene mutations","volume":"460","author":"Wendum","year":"2012","journal-title":"Virchows Arch"},{"issue":"October (4)","key":"10.1016\/j.aohep.2021.100342_bib0245","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1002\/hep.22485","article-title":"A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults","volume":"48","author":"Gotthardt","year":"2008","journal-title":"Hepatology"},{"key":"10.1016\/j.aohep.2021.100342_bib0250","unstructured":"http:\/\/www.hgmd.cf.ac.uk."},{"key":"10.1016\/j.aohep.2021.100342_bib0255","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1055\/s-0030-1253223","article-title":"The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects","volume":"30","author":"Davit-Spraul","year":"2010","journal-title":"Semin Liv Dis"},{"key":"10.1016\/j.aohep.2021.100342_bib0260","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1053\/j.gastro.2008.03.044","article-title":"ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults","volume":"135","author":"Ziol","year":"2008","journal-title":"Gastroenterology"},{"issue":"February (5)","key":"10.1016\/j.aohep.2021.100342_bib0265","doi-asserted-by":"crossref","first-page":"763","DOI":"10.3748\/wjg.v23.i5.763","article-title":"Current and future therapies for inherited cholestatic liver diseases","volume":"23","author":"van der Woerd","year":"2017","journal-title":"World J Gastroenterol"},{"issue":"August (2)","key":"10.1016\/j.aohep.2021.100342_bib0270","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.jhep.2012.01.025","article-title":"ABCB4\/MDR3 gene mutations and cholangiocarcinomas","volume":"57","author":"Tougeron","year":"2012","journal-title":"J Hepatol"},{"issue":"August (2)","key":"10.1016\/j.aohep.2021.100342_bib0275","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/hep.21287","article-title":"Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency","volume":"44","author":"Knisely","year":"2006","journal-title":"Hepatology"},{"key":"10.1016\/j.aohep.2021.100342_bib0280","doi-asserted-by":"crossref","first-page":"e1263","DOI":"10.1002\/mgg3.1263","article-title":"The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes","volume":"8","author":"Jezela-Stanek","year":"2020","journal-title":"Mol Genet Genomic Med"}],"container-title":["Annals of Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1665268121000417?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1665268121000417?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:42:40Z","timestamp":1761648160000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1665268121000417"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":28,"alternative-id":["S1665268121000417"],"URL":"https:\/\/doi.org\/10.1016\/j.aohep.2021.100342","relation":{},"ISSN":["1665-2681"],"issn-type":[{"value":"1665-2681","type":"print"}],"subject":[],"published":{"date-parts":[[2021,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up","name":"articletitle","label":"Article Title"},{"value":"Annals of Hepatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.aohep.2021.100342","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Fundaci\u00f3n Cl\u00ednica M\u00e9dica Sur, A.C. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}],"article-number":"100342"}}