{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:18:41Z","timestamp":1777803521283,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2011,5,13]],"date-time":"2011-05-13T00:00:00Z","timestamp":1305244800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:p>Isolated sulfite oxidase deficiency is a rare neurometabolic disorder that closely mimics hypoxic ischemic encephalopathy both clinically and radiologically. Phenotypic and imaging observations in 2 children (aged 14 months and 8 years) with this disease are described. Both had profound mental retardation, microcephaly, spastic quadriparesis, and uncontrolled seizures from the neonatal period. Diagnosis was established by demonstrating the presence of sulfites in urine and genetic analysis. Magnetic resonance imaging of the brain revealed severe cystic leukomalacia, cortical atrophy with ulegyric pattern, and cerebellar hypoplasia that progressed over time in both the patients. Early diagnosis of this devastating disorder will provide an opportunity for genetic counseling and prenatal testing.<\/jats:p>","DOI":"10.1177\/0883073811401399","type":"journal-article","created":{"date-parts":[[2011,5,13]],"date-time":"2011-05-13T23:19:43Z","timestamp":1305328783000},"page":"1036-1040","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":23,"title":["Clinical and Imaging Observations in Isolated Sulfite Oxidase Deficiency"],"prefix":"10.1177","volume":"26","author":[{"given":"Parayil Sankaran","family":"Bindu","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Christopher","sequence":"additional","affiliation":[{"name":"Department of Neurochemistry, NIMHANS, Bangalore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, NIMHANS, Bangalore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rose Dawn","family":"Bharath","sequence":"additional","affiliation":[{"name":"Department of Neuroimaging and Interventional Radiology, NIMHANS, Bangalore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,5,13]]},"reference":[{"key":"bibr1-0883073811401399","first-page":"3163","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"Johnson JL","year":"2001","edition":"8"},{"key":"bibr2-0883073811401399","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-1897"},{"key":"bibr3-0883073811401399","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-981484"},{"key":"bibr4-0883073811401399","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.18.12.1187"},{"key":"bibr5-0883073811401399","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.2.252"},{"key":"bibr6-0883073811401399","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973798"},{"key":"bibr7-0883073811401399","first-page":"264","volume":"16","author":"Topcu M","year":"2001","journal-title":"J Child Neurol"},{"key":"bibr8-0883073811401399","first-page":"484","volume":"23","author":"Dublin AB","year":"2002","journal-title":"AJNR Am J Neuroradiol"},{"key":"bibr9-0883073811401399","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807306260"},{"key":"bibr10-0883073811401399","first-page":"16","volume":"28","author":"Connolly DJ","year":"2007","journal-title":"AJNR Am J Neuroradiol"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811401399","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811401399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:40Z","timestamp":1777495000000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073811401399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,13]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2011,8]]}},"alternative-id":["10.1177\/0883073811401399"],"URL":"https:\/\/doi.org\/10.1177\/0883073811401399","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,13]]}}}