{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:20:21Z","timestamp":1759882821427,"version":"build-2065373602"},"reference-count":12,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Medical Journal Armed Forces India"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1016\/j.mjafi.2015.11.008","type":"journal-article","created":{"date-parts":[[2016,2,22]],"date-time":"2016-02-22T16:49:13Z","timestamp":1456159753000},"page":"S91-S93","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"S1","title":["Infantile Sandhoff Disease: Unusual presentation"],"prefix":"10.1016","volume":"72","author":[{"given":"C.G.","family":"Muralidharan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.P.S.","family":"Tomar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.mjafi.2015.11.008_bib0065","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1542\/peds.2006-0588","article-title":"The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported","volume":"118","author":"Maegawa","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.mjafi.2015.11.008_bib0070","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/S0022-2836(03)00216-X","article-title":"Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay\u2013Sachs disease","volume":"327","author":"Mark","year":"2003","journal-title":"J Mol Biol"},{"issue":"5","key":"10.1016\/j.mjafi.2015.11.008_bib0075","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/0387-7604(93)90128-U","article-title":"Thalamic hyperdensity \u2013 is it a diagnostic marker for Sandhoff disease?","volume":"15","author":"Caliskan","year":"1993","journal-title":"Brain Dev"},{"issue":"2","key":"10.1016\/j.mjafi.2015.11.008_bib0080","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0303-8467(90)90090-R","article-title":"GM2 gangliosidosis: clinical and biochemical aspects of four cases","volume":"92","author":"Praamstra","year":"1990","journal-title":"Clin Neurol Neurosurg"},{"key":"10.1016\/j.mjafi.2015.11.008_bib0085","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/S0887-8994(99)00041-7","article-title":"Neuroimaging findings of four patients with Sandhoff disease","volume":"21","author":"Yuksel","year":"1999","journal-title":"Paediatr Neurol"},{"key":"10.1016\/j.mjafi.2015.11.008_bib0090","first-page":"125","article-title":"Increased density of the thalamus on CT scans in patients with GM2 gangliosidosis","volume":"11","author":"Brismar","year":"1990","journal-title":"AJNR"},{"key":"10.1016\/j.mjafi.2015.11.008_bib0095","doi-asserted-by":"crossref","first-page":"S178","DOI":"10.1007\/BF02278152","article-title":"MRI in a case of Sandhoff's disease","volume":"38","author":"Hittmair","year":"1996","journal-title":"Neuroradiology"},{"first-page":"103","year":"2005","series-title":"GM2 Gangliosidosis in Magnetic Resonance of Myelination and Myelin disorders","key":"10.1016\/j.mjafi.2015.11.008_bib0100"},{"issue":"July (7)","key":"10.1016\/j.mjafi.2015.11.008_bib0105","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/s00234-007-0220-6","article-title":"Decreased T2 signal in the thalami may be a sign of lysosomal storage disease","volume":"49","author":"Autti","year":"2007","journal-title":"Neuroradiology"},{"issue":"January (1)","key":"10.1016\/j.mjafi.2015.11.008_bib0110","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.ejpn.2007.05.008","article-title":"Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine","volume":"12","author":"Wilken","year":"2008","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.mjafi.2015.11.008_bib0115","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-009-1224-7","article-title":"Miglustat therapy in juvenile Sandhoff disease","author":"Tallaksen","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.mjafi.2015.11.008_bib0120","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-009-1261-2","article-title":"Substrate deprivation therapy in juvenile Sandhoff disease","author":"Wortmann","year":"2009","journal-title":"J Inherit Metab Dis"}],"container-title":["Medical Journal Armed Forces India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0377123715001902?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0377123715001902?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T11:44:42Z","timestamp":1759837482000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0377123715001902"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12]]},"references-count":12,"alternative-id":["S0377123715001902"],"URL":"https:\/\/doi.org\/10.1016\/j.mjafi.2015.11.008","relation":{},"ISSN":["0377-1237"],"issn-type":[{"type":"print","value":"0377-1237"}],"subject":[],"published":{"date-parts":[[2016,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Infantile Sandhoff Disease: Unusual presentation","name":"articletitle","label":"Article Title"},{"value":"Medical Journal Armed Forces India","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mjafi.2015.11.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Published by Elsevier B.V. on behalf of Director General, Armed Forces Medical Services.","name":"copyright","label":"Copyright"}]}}