{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:01:31Z","timestamp":1761487291815},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":6612,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1986,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 6\u00bd\u2010month\u2010old male offspring of consanguineous Egyptian parents was first seen because of fever, somnolence, vomiting, right focal motor seizures, right hemiparesis, elevated transaminase levels, hyperammonemia, and acidosis. A computed tomographic scan of the head suggested swelling of the left cerebral hemisphere, and an electroencephalogram indicated left frontotemporal abnormalities, but brain biopsy demonstrated diffuse white matter spongiosis and gliosis. Subsequently, urine organic acid analysis and enzyme assays were diagnostic of 3\u2010hydroxy\u20103\u2010methylglutaryl\u2013coenzyme A lyase deficiency.<\/jats:p>","DOI":"10.1002\/ana.410200318","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:34:45Z","timestamp":1104600885000},"page":"367-369","source":"Crossref","is-referenced-by-count":22,"title":["Atypical presentation and neuropathological studies in 3\u2010hydroxy\u20103\u2010methylglutaryl\u2013CoA lyase deficiency"],"prefix":"10.1002","volume":"20","author":[{"given":"Huda Y.","family":"Zoghbi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Edward","family":"Spence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur L.","family":"Beaudet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William E.","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clay J.","family":"Goodman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth M.","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02263646"},{"key":"e_1_2_1_3_2","first-page":"116","article-title":"Lesions in the central nervous system associated with inborn errors of amino acid metabolism","volume":"56","author":"Donohue WL","year":"1967","journal-title":"Acta Paediatr Scand"},{"key":"e_1_2_1_4_2","first-page":"605","volume-title":"Greenfield's Neuropathology","author":"Duchen LW","year":"1984"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80297-8"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197604292941823"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02263641"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.3109\/01677068409107082"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)91137-1"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442334"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(72)90121-9"},{"key":"e_1_2_1_12_2","first-page":"920","volume-title":"Histology and Histopathology of the Nervous System","author":"Miquel J","year":"1982"},{"key":"e_1_2_1_13_2","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1093\/clinchem\/28.1.137","article-title":"Gas\u2010chromatographic\/mass spectrometric detection of 3\u2010hydroxy\u20103\u2010methylglutaryl\u2010CoA lyase deficiency in double first cousins","volume":"28","author":"Norman EJ","year":"1982","journal-title":"Clin Chem"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.7.714"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80364-9"},{"key":"e_1_2_1_16_2","first-page":"791","article-title":"Genetic complementation analysis of 3\u2010hydroxy\u20103\u2010methylglutaryl\u2010coenzyme A lyase deficiency in cultured fibroblasts","volume":"36","author":"Sovik O","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00540255"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410200318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410200318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T13:43:38Z","timestamp":1697895818000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410200318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,9]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,9]]}},"alternative-id":["10.1002\/ana.410200318"],"URL":"https:\/\/doi.org\/10.1002\/ana.410200318","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,9]]}}}