{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T23:04:40Z","timestamp":1780614280852,"version":"3.54.1"},"reference-count":12,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2010,2,8]],"date-time":"2010-02-08T00:00:00Z","timestamp":1265587200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:p>Sj\u00f6gren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sj\u00f6gren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glistening dots. The authors report the large kinship with Sj\u00f6gren-Larsson syndrome, which is a rare and most probably underdiagnosed syndrome.<\/jats:p>","DOI":"10.1177\/0883073809348972","type":"journal-article","created":{"date-parts":[[2010,2,8]],"date-time":"2010-02-08T21:49:57Z","timestamp":1265665797000},"page":"1003-1005","source":"Crossref","is-referenced-by-count":2,"title":["A Very Rare Neurocutaneous Disorder in 2 Siblings: Sj\u00f6gren-Larsson Syndrome"],"prefix":"10.1177","volume":"25","author":[{"given":"Ahmet Okay","family":"Caglayan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakan","family":"Gumus","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,2,8]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20181"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.00152.x"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.08.006"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.7.1426"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115478"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-52"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00758.x"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.7.1345"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.7.1426"},{"issue":"4","key":"atypb10","first-page":"649","volume":"25","author":"Willemsen MA","year":"2004","journal-title":"Am J Neuroradiol"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1080\/17518420902800944"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-005-0556-x"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809348972","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809348972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:31Z","timestamp":1777494931000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073809348972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,8]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["10.1177\/0883073809348972"],"URL":"https:\/\/doi.org\/10.1177\/0883073809348972","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,8]]}}}