{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T08:02:56Z","timestamp":1787731376980,"version":"build-2784847793"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2012,2,25]],"date-time":"2012-02-25T00:00:00Z","timestamp":1330128000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1007\/s12098-012-0717-9","type":"journal-article","created":{"date-parts":[[2012,2,24]],"date-time":"2012-02-24T11:02:29Z","timestamp":1330081349000},"page":"163-164","source":"Crossref","is-referenced-by-count":7,"title":["Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase Gene"],"prefix":"10.1007","volume":"80","author":[{"given":"Zoran","family":"Gucev","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"Pop-Jordanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Jancevska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Calogera M.","family":"Simonaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward H.","family":"Schuchmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,2,25]]},"reference":[{"key":"717_CR1","first-page":"3589","volume-title":"The metabolic and molecular bases of inherited disease","author":"EH Schuchman","year":"2001","unstructured":"Schuchman EH, Desnick RJ. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Valle D, Sly WS, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill; 2001. pp. 3589\u2013610.","edition":"8"},{"key":"717_CR2","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1212\/01.wnl.0000194208.08904.0c","volume":"66","author":"MM McGovern","year":"2006","unstructured":"McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology. 2006;66:228\u201332.","journal-title":"Neurology"},{"key":"717_CR3","first-page":"S48","volume":"47","author":"EH Schuchman","year":"2009","unstructured":"Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther. 2009;47:S48\u201357.","journal-title":"Int J Clin Pharmacol Ther"},{"key":"717_CR4","doi-asserted-by":"crossref","first-page":"e341","DOI":"10.1542\/peds.2007-3016","volume":"122","author":"MM McGovern","year":"2008","unstructured":"McGovern MM, Wasserstein MP, Giugliani R, et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 2008;122:e341\u20139.","journal-title":"Pediatrics"},{"key":"717_CR5","unstructured":"McGovern MM, Schuchman EH. Acid sphingomyelinase deficiency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle (WA): University of Washington; 1993\u20132006 Dec 07 [updated 2009 Jun 25]."}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-012-0717-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-012-0717-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-012-0717-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T03:57:12Z","timestamp":1559447832000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-012-0717-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,25]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["717"],"URL":"https:\/\/doi.org\/10.1007\/s12098-012-0717-9","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,25]]}}}