{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T20:20:18Z","timestamp":1698956418568},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":9625,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1978,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 21\u2010year\u2010old man with a longstanding history of impaired visual acuity, strabismus, broad\u2010based gait, and below\u2010average intellectual capacity developed respiratory difficulties and intermittent generalized weakness at age 19. He subsequently showed signs of massive brainstem dysfunction and died. Postmortem examination demonstrated changes compatible with subacute necrotizing encephalomyelopathy of Leigh involving portions of the diencephalon, midbrain, pons, and medulla as well as portions of the spinal cord and optic nerves. Evaluation of family members for presence of the urinary inhibitor factor for thiamine diphosphate phosphoryl transferase revealed abnormal levels in a brother, a maternal uncle, and the maternal grandfather of the patient.<\/jats:p>","DOI":"10.1002\/ana.410030612","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:44:23Z","timestamp":1104597863000},"page":"519-524","source":"Crossref","is-referenced-by-count":8,"title":["Leigh's disease in an adult with evidence of \u201cinhibitor factor\u201d in family members"],"prefix":"10.1002","volume":"3","author":[{"suffix":"Jr","given":"William O.","family":"Whetsell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Plaitakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.164.3875.74"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197701000-00011"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.8.749"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(54)80188-0"},{"key":"e_1_2_1_6_2","first-page":"347","article-title":"Sur la d\u00e9limitation clinicopathologique de l'enc\u00e9phalopathie de Gayet\u2010Wernicke et de la for me adulte de l'enc\u00e9phalopathie de Leigh","volume":"72","author":"Martin JJ","year":"1972","journal-title":"Acta Neurol Belg"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/94.1.1"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1542\/peds.51.4.710","article-title":"Subacute necrotizing encephalomyelopathy (Leigh's disease) detection of the heterozygous carrier state","volume":"51","author":"Murphy JV","year":"1972","journal-title":"Pediatrics"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.38.11.1100"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1972.tb02563.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.24.9.885"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500110027005"},{"key":"e_1_2_1_13_2","first-page":"497","article-title":"Subacute necrotizing encephalomyelopathy (Leigh's disease): Clinical and genetic considerations of its adult form (abstract)","volume":"1","author":"Plaitakis A","year":"1977","journal-title":"Ann Neurol"},{"key":"e_1_2_1_14_2","unstructured":"PlaitakisA WhetsellWOJrYahrMD: Subacute necrotizing encephalomyelopathy: a consideration of genetic and clinical aspects of the adult form.Trans Neurol Assoc(in press)"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.23.10.1030"},{"key":"e_1_2_1_16_2","first-page":"282","article-title":"La forme adulte \u00e0 \u00e9volution chronique de l'enc\u00e8phalopathie n\u00e9crosante de Leigh. Sa situation vis\u2010\u00e0\u2010vis des formes infanto\u2010juv\u00e9niles","volume":"71","author":"Solheid C","year":"1971","journal-title":"Acta Neurol Belg"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410030612","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410030612","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T04:19:27Z","timestamp":1698898767000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410030612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,6]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1978,6]]}},"alternative-id":["10.1002\/ana.410030612"],"URL":"https:\/\/doi.org\/10.1002\/ana.410030612","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,6]]}}}