{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T23:27:25Z","timestamp":1783380445237,"version":"3.54.6"},"reference-count":2,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2018,7,14]],"date-time":"2018-07-14T00:00:00Z","timestamp":1531526400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"None"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1007\/s12098-018-2741-x","type":"journal-article","created":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T20:37:21Z","timestamp":1531514241000},"page":"1134-1135","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene"],"prefix":"10.1007","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K.","family":"Gowda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varunvenkat M.","family":"Srinivasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha","family":"Benakappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,7,14]]},"reference":[{"key":"2741_CR1","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s100380050116","volume":"44","author":"A Tanaka","year":"1999","unstructured":"Tanaka A, Fujimaru M, Choeh K, Isshiki G. Novel mutations, including the second most common in Japan, in the B-hexosaminidase a subunit gene, a simple screening of Japanese patients with Tay-Sachs disease. J Hum Genet. 1999;44:91\u20135.","journal-title":"J Hum Genet"},{"key":"2741_CR2","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1186\/1479-7364-4-2-69","volume":"4","author":"PD Stenson","year":"2009","unstructured":"Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. The human gene mutation database: providing a comprehensive central mutation data base for molecular diagnostics and personalized genomics. Hum Genomics. 2009;4:69\u201372.","journal-title":"Hum Genomics"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-018-2741-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-018-2741-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-018-2741-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,13]],"date-time":"2019-07-13T19:19:55Z","timestamp":1563045595000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-018-2741-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,14]]},"references-count":2,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["2741"],"URL":"https:\/\/doi.org\/10.1007\/s12098-018-2741-x","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,14]]},"assertion":[{"value":"28 November 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 June 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 July 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}