{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:16:37Z","timestamp":1789179397992,"version":"build-2803163510"},"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>This paper reviews the clinical presentation of 217 patients with urea cycle defects, including 121 patients with neonatal\u2010onset forms and 96 patients with late\u2010onset forms. Long\u2010term outcome of these patients is also reported with the severity of the neonatal forms of these disorders, mostly for ornithine carbamoyltransferase\u2010deficient males. Patients with late\u2010onset forms may present at any age and carry a 28% mortality rate and a subsequent risk of subsequent disabilities.<\/jats:p>","DOI":"10.1007\/s10545-005-0303-7","type":"journal-article","created":{"date-parts":[[2005,4,27]],"date-time":"2005-04-27T15:31:45Z","timestamp":1114615905000},"page":"407-414","source":"Crossref","is-referenced-by-count":143,"title":["Urea cycle defects: Management and outcome"],"prefix":"10.1002","volume":"28","author":[{"given":"M. C.","family":"Nassogne","sequence":"first","affiliation":[{"name":"Paediatric Neurology Unit, Department of Paediatrics Saint\u2010Luc Hospital Brussels  Belgium"},{"name":"Paediatric Neurology Unit, Department of Paediatrics Saint\u2010Luc Hospital  Avenue Hippocrate, 10\/1067, B\u20101200 Bruxelles Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"H\u00e9ron","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Saint Vincent de Paul Hospital  Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Touati","sequence":"additional","affiliation":[{"name":"Departments of Metabolism and Biochemistry Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rabier","sequence":"additional","affiliation":[{"name":"Departments of Metabolism and Biochemistry Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M.","family":"Saudubray","sequence":"additional","affiliation":[{"name":"Departments of Metabolism and Biochemistry Necker\u2010Enfants Malades Hospital  Paris France"}],"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\/s10545-005-0303-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0303-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:17:43Z","timestamp":1694737063000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0303-7"}},"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\/s10545-005-0303-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0303-7","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]]}}}