{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:52:37Z","timestamp":1788357157603,"version":"build-2803163510"},"reference-count":16,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001721","name":"Rijksuniversiteit Groningen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001721","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.ejmg.2021.104245","type":"journal-article","created":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T22:34:16Z","timestamp":1620858856000},"page":"104245","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative"],"prefix":"10.1016","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0730-0201","authenticated-orcid":false,"given":"Daan B.E.","family":"van Wessel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1546-3193","authenticated-orcid":false,"given":"Emmanuel","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina E.","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7034-2861","authenticated-orcid":false,"given":"Henkjan J.","family":"Verkade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejmg.2021.104245_bib1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/ng0398-219","article-title":"A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis","volume":"18","author":"Bull","year":"1998","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104245_bib2","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/hep.22683","article-title":"Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing","volume":"49","author":"Byrne","year":"2009","journal-title":"Hepatology"},{"issue":"5","key":"10.1016\/j.ejmg.2021.104245_bib3","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1002\/hep.23539","article-title":"ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history","volume":"51","author":"Davit-Spraul","year":"2010","journal-title":"Hepatology"},{"issue":"5","key":"10.1016\/j.ejmg.2021.104245_bib4","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1002\/hep.23158","article-title":"Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1","volume":"50","author":"Folmer","year":"2009","journal-title":"Hepatology"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104245_bib5","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J. Biomed. Inf."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104245_bib6","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1002\/hep.20627","article-title":"Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP\/ABCB11","volume":"41","author":"Hayashi","year":"2005","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104245_bib7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2021.104245_bib8","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/hep.21950","article-title":"ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity","volume":"47","author":"Paulusma","year":"2008","journal-title":"Hepatology"},{"issue":"8","key":"10.1016\/j.ejmg.2021.104245_bib9","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1093\/hmg\/ddh100","article-title":"A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion","volume":"13","author":"Pawlikowska","year":"2004","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104245_bib10","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/3034","article-title":"A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis","volume":"20","author":"Strautnieks","year":"1998","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104245_bib11","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1053\/j.gastro.2008.01.038","article-title":"Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families","volume":"134","author":"Strautnieks","year":"2008","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2021.104245_bib12","first-page":"1","article-title":"Regulation (EC) No 141\/2000 of the European parliament and of the Council of 16 december 1999 on orphan medicinal products","volume":"18","year":"2000","journal-title":"Official Journal of the European Union"},{"issue":"378\/1","key":"10.1016\/j.ejmg.2021.104245_bib13","first-page":"1","article-title":"Regulation (EC) No1901\/2006 on medicinal poducts for paediatric use and amending Regulation (EC) No 1768\/92, Directive 2001\/20\/EC and Regulation (EC) No. OJ. ( L378) 27\/12\/2006:1\u201319. 726\/2004","year":"2006","journal-title":"Official Journal of the European Union [Internet]"},{"key":"10.1016\/j.ejmg.2021.104245_bib15","doi-asserted-by":"crossref","first-page":"S626","DOI":"10.1016\/S0168-8278(18)31509-5","article-title":"The natural course of FIC1 deficiency and BSEP deficiency: initial results from the NAPPED-consortium (Natural course and Prognosis of PFIC and Effect of biliary Diversion)","volume":"68","author":"van Wessel","year":"2018","journal-title":"J. Hepatol."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104245_bib16","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.jhep.2020.02.007","article-title":"Genotype correlates with the natural history of severe bile salt export pump deficiency","volume":"73","author":"van Wessel","year":"2020","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104245_bib17","series-title":"Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency","author":"van Wessel","year":"2021"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001117?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001117?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:50:29Z","timestamp":1761709829000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221001117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["S1769721221001117"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104245","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104245","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104245"}}