{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:22:58Z","timestamp":1780327378999,"version":"3.54.1"},"reference-count":0,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2000,7,1]],"date-time":"2000-07-01T00:00:00Z","timestamp":962409600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2000,7]]},"DOI":"10.1038\/sj.ejhg.5200477","type":"journal-article","created":{"date-parts":[[2002,9,17]],"date-time":"2002-09-17T20:46:47Z","timestamp":1032295607000},"page":"557-560","source":"Crossref","is-referenced-by-count":37,"title":["Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population"],"prefix":"10.1038","volume":"8","author":[{"given":"Erik A","family":"Sistermans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9 FM","family":"de Coo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hetty M","family":"van Beerendonk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bwee Tien","family":"Poll-The","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim J","family":"Kleijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard A","family":"van Oost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2000,7,24]]},"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200477.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200477","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200477.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:25:03Z","timestamp":1684373103000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200477"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,7]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2000,7]]}},"alternative-id":["BF5200477"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200477","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,7]]}}}