{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:55Z","timestamp":1791536275240,"version":"4.3.4"},"reference-count":10,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","journal-of-hepatology.eu","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Hepatology"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.jhep.2020.07.006","type":"journal-article","created":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T17:34:13Z","timestamp":1598549653000},"page":"1257-1258","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["NISCH syndrome: An extremely rare cause of neonatal cholestasis"],"prefix":"10.1016","volume":"73","author":[{"given":"Ana Carolina","family":"Izurieta Pacheco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2410-6358","authenticated-orcid":false,"given":"Laura","family":"Monfort Carretero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Prat Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Garc\u00eda-Alix P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1193-6803","authenticated-orcid":false,"given":"Cristina","family":"Molera Busoms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jhep.2020.07.006_bib1","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/humu.20333","article-title":"Confirmation of the origin of NISCH syndrome","volume":"27","author":"Feldemeyer","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jhep.2020.07.006_bib2","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1046\/j.1523-1747.2002.01809.x","article-title":"Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28","volume":"119","author":"Baala","year":"2002","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jhep.2020.07.006_bib3","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/ajg.2016.533","article-title":"Gene-targeted next-generation sequencing identifies a novel CLDN1 mutation in a consanguineous family with NISCH syndrome","volume":"112","author":"Youssefian","year":"2017","journal-title":"Am J Gastroenterol"},{"key":"10.1016\/j.jhep.2020.07.006_bib4","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1111\/bjd.12724","article-title":"Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome","volume":"170","author":"Kirchmeier","year":"2014","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jhep.2020.07.006_bib5","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1016\/j.arcped.2017.09.016","article-title":"Le syndrome NISCH, une cause rare de cholestase n\u00e9onatale: \u00e0 propos d'un cas","volume":"24","author":"Szepetowski","year":"2017","journal-title":"Arch Pediatr"},{"key":"10.1016\/j.jhep.2020.07.006_bib6","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1002\/hep.24761","article-title":"Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability","volume":"55","author":"Grosse","year":"2012","journal-title":"Hepatology"},{"key":"10.1016\/j.jhep.2020.07.006_bib7","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S1665-2681(19)31642-4","article-title":"NISCH syndrome with hypothyroxinemia","volume":"9","author":"Shah","year":"2010","journal-title":"Ann Hepatol"},{"key":"10.1016\/j.jhep.2020.07.006_bib8","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1097\/MPG.0b013e3182169433","article-title":"Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 Deficiency","volume":"53","author":"Paganelli","year":"2011","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jhep.2020.07.006_bib9","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1053\/j.gastro.2010.05.073","article-title":"Monoclonal anti-claudin 1 antiboides prevent hepatitis C virus infections of primary human hepatocytes","volume":"139","author":"Fofana","year":"2010","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jhep.2020.07.006_bib10","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1111\/j.1365-2133.2010.09794.x","article-title":"Bile duct paucity is part of neonatal ichthyosis-sclerosing cholangitis phenotype","volume":"163","author":"Nagtzaam","year":"2010","journal-title":"Br J Dermatol"}],"container-title":["Journal of Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0168827820304591?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0168827820304591?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T17:44:58Z","timestamp":1764611098000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0168827820304591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["S0168827820304591"],"URL":"https:\/\/doi.org\/10.1016\/j.jhep.2020.07.006","relation":{},"ISSN":["0168-8278"],"issn-type":[{"value":"0168-8278","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"NISCH syndrome: An extremely rare cause of neonatal cholestasis","name":"articletitle","label":"Article Title"},{"value":"Journal of Hepatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jhep.2020.07.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}