{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T16:58:09Z","timestamp":1789923489719,"version":"4.0.1"},"reference-count":0,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,1]],"date-time":"2005-05-01T00:00:00Z","timestamp":1114905600000},"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":[[2005,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfunctions. Here a short review of the consequences of defects of the distal cholesterol pathways to brain formation and functioning is provided.<\/jats:p>","DOI":"10.1007\/s10545-005-7055-2","type":"journal-article","created":{"date-parts":[[2005,4,27]],"date-time":"2005-04-27T15:31:45Z","timestamp":1114615905000},"page":"385-392","source":"Crossref","is-referenced-by-count":21,"title":["Congenital brain anomalies in distal cholesterol biosynthesis defects"],"prefix":"10.1002","volume":"28","author":[{"given":"R. C. M.","family":"Hennekam","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Clinical Genetics Academic Medical Center  Amsterdam The Netherlands"},{"name":"Department of Pediatrics Academic Medical Center  floor H8\u2010239, Meibergdreef 15 Amsterdam AZ 1105 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-7055-2","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-7055-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:17:39Z","timestamp":1694737059000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-7055-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["10.1007\/s10545-005-7055-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-7055-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5]]}}}