{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T20:29:34Z","timestamp":1794083374147,"version":"4.8.0"},"reference-count":13,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[1990,7,1]],"date-time":"1990-07-01T00:00:00Z","timestamp":646790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1990,7]]},"abstract":"<jats:p>Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 \u03bcmol\/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness and light sleep, bilateral bursts of spike or multispike-and-wave activity were seen in all but the oldest girl. In one of the younger girls, slight cortical atrophy was found on computed tomographic scan. Muscle biopsy was performed on all girls, and electron microscopy revealed abnormal mitochondria. Physical signs such as somatic hypotrophy with extremely small muscle mass, and unsatisfactory weight gain in spite of good appetite are found in Rett syndrome. These attributes, as well as reports of ornithine carbamoyltransferase deficiency, may support a mitochondrial dysfunction. The mitochondrial changes indicate either a mitochondrial mutation or more probably an X-borne modulator gene mutation. Another genetic possibility discussed is the \"metabolic interference\" of an X-borne allele. Further delineation of such mitochondrial changes may clarify the causal metabolic defect in Rett syndrome. ( J Child Neurol 1990;5:210-214).<\/jats:p>","DOI":"10.1177\/088307389000500311","type":"journal-article","created":{"date-parts":[[2009,9,15]],"date-time":"2009-09-15T15:05:50Z","timestamp":1253027150000},"page":"210-214","source":"Crossref","is-referenced-by-count":52,"title":["Rett Syndrome: A Mitochondrial Disease?"],"prefix":"10.1177","volume":"5","author":[{"given":"Orvar","family":"Eeg-Olofsson","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Department of Paediatrics, Amiri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali G.H.","family":"Al-Zuhair","sequence":"additional","affiliation":[{"name":"Department of Anatomy (Dr Al-Zuhair), Faculty of Medicine, Kuwait University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad S.","family":"Teebi","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre, Maternity Hospital, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azhar S.","family":"Daoud","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Farwanyia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Zaki","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Farwanyia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed S.","family":"Besisso","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Sabah Hospitals"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazen M.N.","family":"Al-Essa","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Amiri"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[1990,7,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250540"},{"key":"atypb3","volume-title":"Proceedings of the symposium on Rett syndrome"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230432"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(88)80010-X"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(87)80062-1"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(89)90031-3"},{"key":"atypb8","first-page":"723","volume":"116","author":"Rett A.","year":"1966","journal-title":"Wien Med Wochenschr"},{"key":"atypb9","first-page":"446","volume":"9","author":"Opitz JM","year":"1988","journal-title":"Brain Dev"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80186-0"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1172\/JCI104637"},{"key":"atypb13","first-page":"374","volume":"32","author":"Johnson WF","year":"1980","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389000500311","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389000500311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:39:15Z","timestamp":1777495155000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307389000500311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,7]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,7]]}},"alternative-id":["10.1177\/088307389000500311"],"URL":"https:\/\/doi.org\/10.1177\/088307389000500311","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,7]]}}}