{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T23:45:12Z","timestamp":1782949512629,"version":"3.54.5"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,11,23]],"date-time":"2015-11-23T00:00:00Z","timestamp":1448236800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s13256-015-0741-2","type":"journal-article","created":{"date-parts":[[2015,11,17]],"date-time":"2015-11-17T15:43:07Z","timestamp":1447774987000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report"],"prefix":"10.1186","volume":"9","author":[{"given":"Majid","family":"Alameri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Shakra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taoufik","family":"Alsaadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,11,23]]},"reference":[{"key":"741_CR1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.1.e10","volume":"105","author":"D Applegarth","year":"2000","unstructured":"Applegarth D, Toone J, Lowry R. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. 2000;105, e10.","journal-title":"Pediatrics."},{"key":"741_CR2","unstructured":"Gascon-Bayarri J, Campdelacreu J, Estela J, Re\u00f1\u00e9 R. Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration, Case Reports in Neurological Medicine. 2015;2015, Article ID 453752, p 3."},{"key":"741_CR3","unstructured":"Thomas GH. High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorder. Am J Hum Genet. 1996;58:1364\u20138. Available at: http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC1915043\/ . Accessed 20 April 2015."},{"key":"741_CR4","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1034\/j.1399-0004.1998.5440415.x","volume":"54","author":"T Yorifuji","year":"1998","unstructured":"Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F, et al. X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency. Clin Genet. 1998;54:349\u201353.","journal-title":"Clin Genet."},{"key":"741_CR5","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/0026-0495(75)90144-4","volume":"24","author":"J Milner","year":"1975","unstructured":"Milner J, Visek W. Urinary metabolites characteristic of urea-cycle amino acid deficiency. Metabolism. 1975;24:643\u201351.","journal-title":"Metabolism."},{"key":"741_CR6","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1016\/S0022-3476(05)80129-5","volume":"117","author":"J Finkelstein","year":"1990","unstructured":"Finkelstein J, Hauser E, Leonard C, Brusilow S. Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr. 1990;117:897\u2013902.","journal-title":"J Pediatr."},{"key":"741_CR7","unstructured":"Lichter-Konecki U, Caldovic L, Morizono H, Simpson K. Ornithine transcarbamylase deficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, editors. GeneReviews\u00ae [online]. Seattle, WA: University of Washington, Seattle;1995\u20132015. Available at: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK154378\/ . Accessed 20 April 2015."},{"key":"741_CR8","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/S0022-3476(94)70205-5","volume":"125","author":"M Spada","year":"1994","unstructured":"Spada M, Guardamagna O, Rabier D, van der Meer S, Parvy P, Bardet J, et al. Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests. J Pediatr. 1994;125:249\u201351.","journal-title":"J Pediatr."},{"key":"741_CR9","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1007\/s12072-008-9078-x","volume":"2","author":"O Klein","year":"2008","unstructured":"Klein O, Kostiner D, Weisiger K, Moffatt E, Lindeman N, Goodman S, et al. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int. 2008;2:390\u20134.","journal-title":"Hepatol Int."},{"key":"741_CR10","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.ymgme.2003.08.016","volume":"80","author":"S Raper","year":"2003","unstructured":"Raper S, Chirmule N, Lee F, Wivel N, Bagg A, Gao G, et al. Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. Mol Genet Metab. 2003;80:148\u201358.","journal-title":"Mol Genet Metab."},{"key":"741_CR11","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1186\/s13023-014-0105-9","volume":"9","author":"C Cavicchi","year":"2014","unstructured":"Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, et al. Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. Orphanet J Rare Dis. 2014;9:105.","journal-title":"Orphanet J Rare Dis."},{"key":"741_CR12","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1002\/lt.500040504","volume":"4","author":"A Busuttil","year":"1998","unstructured":"Busuttil A, Goss J, Seu P, Dulkanchainun T, Yanni G, McDiarmid S, et al. The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency. Liver Transpl Surg. 1998;4:350\u20134.","journal-title":"Liver Transpl Surg."},{"key":"741_CR13","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s13023-015-0266-1","volume":"10","author":"A Brassier","year":"2015","unstructured":"Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, et al. Long-term outcomes in ornithine transcarbamylase deficiency: a series of 90 patients. Orphanet J Rare Dis. 2015;10:58.","journal-title":"Orphanet J Rare Dis."}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-015-0741-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13256-015-0741-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-015-0741-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,10,3]],"date-time":"2016-10-03T20:30:47Z","timestamp":1475526647000},"score":1,"resource":{"primary":{"URL":"http:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-015-0741-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,23]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["741"],"URL":"https:\/\/doi.org\/10.1186\/s13256-015-0741-2","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,23]]},"article-number":"267"}}