{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:21:18Z","timestamp":1777803678203,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2012,8,21]],"date-time":"2012-08-21T00:00:00Z","timestamp":1345507200000},"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":[[2013,10]]},"abstract":"<jats:p>Gaucher\u2019s disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher\u2019s disease has 3 types\u2014non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). It generally presents with delayed milestones, seizures, bony deformities, or massive organomegaly. The acute neuronoapthic variety is the rarer type that predominantly presents with neurological features. The authors present a case of the acute neuronopathic variety of Gaucher\u2019s disease where the child presented with only abnormal head position.<\/jats:p>","DOI":"10.1177\/0883073812454940","type":"journal-article","created":{"date-parts":[[2012,8,22]],"date-time":"2012-08-22T20:38:06Z","timestamp":1345667886000},"page":"1296-1298","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Gaucher\u2019s Disease"],"prefix":"10.1177","volume":"28","author":[{"given":"Bikash","family":"Shrestha","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Armed Forces Medical College, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Devgan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Armed Forces Medical College, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mukti","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Armed Forces Medical College, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,8,21]]},"reference":[{"key":"bibr1-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-04-308890"},{"key":"bibr2-0883073812454940","volume-title":"he Metabolic and Molecular Bases of Inherited Disease","author":"Beutler E","year":"2001","edition":"3"},{"key":"bibr3-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61522-6"},{"key":"bibr4-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"bibr5-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.015"},{"key":"bibr6-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9095-5"},{"key":"bibr7-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2004.02.018"},{"key":"bibr8-0883073812454940","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-198668060-00002"},{"key":"bibr9-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"bibr10-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-12-5072"},{"key":"bibr11-0883073812454940","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9071-0"},{"key":"bibr12-0883073812454940","first-page":"703","volume":"91","author":"Giraldo P","year":"2006","journal-title":"Haematologica"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812454940","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812454940","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812454940","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:24Z","timestamp":1777495044000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812454940"}},"subtitle":["Rare Presentation of a Rare Disease"],"short-title":[],"issued":{"date-parts":[[2012,8,21]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1177\/0883073812454940"],"URL":"https:\/\/doi.org\/10.1177\/0883073812454940","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,21]]}}}