{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:04:40Z","timestamp":1777802680999,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"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":[[2007,2]]},"abstract":"<jats:p>\n                    Biotinidase deficiency is a treatable cause of severe neurological disorders and skin problems. Spinal cord impairment is a rare complication of this disease and is commonly unrecognized. The authors encountered 3 Chinese patients with progressive spinal cord demyelination associated with biotinidase deficiency. Case 1 exhibited fatigue, proximal muscular weakness, and hypotonic paraplegia from the age of 7 years 4 months. Demyelination of cervical and thoracic cord was evident on magnetic resonance imaging (MRI). Case 2 developed visual impairment, blepharoconjunctivitis, and optic nerve atrophy from 5 years of age, which combined with progressive hypertonic paralysis, ataxia, and alopecia from the age of 7 years. His spinal MRI T2-weighted sequence revealed an extensive hyperintense lesion involving the cervical spinal cord C\n                    <jats:sub>2<\/jats:sub>\n                    to C\n                    <jats:sub>4<\/jats:sub>\n                    . Bilateral optic nerves were significantly thick. In case 3, intercurrent wheezing, tachypnea, dyspnea, and lethargy occurred from the age of 1 year. Medulla and upper cervical spine edema and demyelination were found on MRI. Markedly elevated urine organic acids and decreased blood biotinidase activities were observed in the 3 patients. Biotin supplementation led to a dramatic improvement of clinical symptoms in 3 patients. The findings indicate that biotinidase deficiency should be considered in the differential diagnosis of unexplained spinal cord demyelination because prompt diagnosis and treatment with biotin may enable an excellent recovery.\n                  <\/jats:p>","DOI":"10.1177\/0883073807300307","type":"journal-article","created":{"date-parts":[[2007,5,7]],"date-time":"2007-05-07T12:29:28Z","timestamp":1178540968000},"page":"156-160","source":"Crossref","is-referenced-by-count":36,"title":["Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients"],"prefix":"10.1177","volume":"22","author":[{"given":"Yanling","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaoyang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaoyue","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Medical Radiology, General Hospital of Air Force, Beijing. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiangxi","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Medical Radiology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuko","family":"Tagami","sequence":"additional","affiliation":[{"name":"Sapporo City Institute of Public Health, Sapporo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuwu","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiong","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi-Ru","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,2,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90096-7"},{"key":"atypb2","unstructured":"Wolf B. 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