{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:00:43Z","timestamp":1761102043426},"reference-count":3,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,2,14]],"date-time":"2013-02-14T00:00:00Z","timestamp":1360800000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leigh syndrome is a neurometabolic disorder commonly associated with disturbed oxidative phosphorylation, which leads to bilateral symmetric necrotizing lesions in the central nervous system. Neurological symptoms may be accompanied by cutaneous abnormalities. Here, we present images of distinct hypertrichosis in an otherwise asymptomatic one\u2010year\u2010old patient with pathogenic SURF1 gene mutations. We conclude that, if Leigh syndrome is suspected, the presence of characteristic hypertrichosis should prompt SURF1 mutation analysis.<\/jats:p>","DOI":"10.1007\/s10545-013-9593-3","type":"journal-article","created":{"date-parts":[[2013,2,13]],"date-time":"2013-02-13T09:59:22Z","timestamp":1360749562000},"page":"1081-1082","source":"Crossref","is-referenced-by-count":5,"title":["Hypertrichosis in presymptomatic mitochondrial disease"],"prefix":"10.1002","volume":"36","author":[{"given":"Fabian","family":"Baertling","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital, Heinrich\u2010Heine\u2010University Moorenstr. 5 D\u00fcsseldorf 40225 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ertan","family":"Mayatepek","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital, Heinrich\u2010Heine\u2010University Moorenstr. 5 D\u00fcsseldorf 40225 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital, Heinrich\u2010Heine\u2010University Moorenstr. 5 D\u00fcsseldorf 40225 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,14]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.103.2.428"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.07.013"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30972"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-013-9593-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T07:37:16Z","timestamp":1694763436000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-013-9593-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,14]]},"references-count":3,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.1007\/s10545-013-9593-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-013-9593-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,14]]}}}