{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T20:19:06Z","timestamp":1790540346639,"version":"4.1.0"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Niemann-Pick disease (NPD) is a heterogenous group of progressive neurovisceral disorder characterised by lysosomal accumulation of sphingomyelin. NPD types A and B are caused by mutations involving sphingomyelin-phosphodiesterase-1 (SMPD1) gene and are characterised by deficiency of acid sphingomyelinase activity. We present a case of a 9-month infant with clinical manifestations intermediate between types A and B NPD and genetically illustrating a novel R542X mutation in the exon 6 of SMPD1.<\/jats:p>","DOI":"10.1136\/bcr-2012-006959","type":"journal-article","created":{"date-parts":[[2012,11,27]],"date-time":"2012-11-27T17:53:18Z","timestamp":1354038798000},"page":"bcr2012006959","source":"Crossref","is-referenced-by-count":6,"title":["R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease"],"prefix":"10.1136","volume":"2012","author":[{"given":"Aradhana","family":"Aneja","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditi","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishal","family":"Sondhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,11,27]]},"reference":[{"key":"2025042707374052000_2012.nov22_2.bcr2012006959.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0632-9"},{"key":"2025042707374052000_2012.nov22_2.bcr2012006959.2","unstructured":"McGovern MM Schuchman EH . Acid sphingomyelinase deficiency. Gene Rev. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1370\/ (accessed 0 Jun 2011)."},{"key":"2025042707374052000_2012.nov22_2.bcr2012006959.3","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90246-B"},{"key":"2025042707374052000_2012.nov22_2.bcr2012006959.4","doi-asserted-by":"publisher","DOI":"10.1086\/503750"},{"key":"2025042707374052000_2012.nov22_2.bcr2012006959.5","doi-asserted-by":"publisher","DOI":"10.1042\/BC20060051"},{"key":"2025042707374052000_2012.nov22_2.bcr2012006959.6","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1007\/s00439-002-0893-1","article-title":"Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol","volume":"112","author":"Lee","year":"2003","journal-title":"Hum Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-006959","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:37:49Z","timestamp":1745764669000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-006959"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,27]]},"references-count":6,"alternative-id":["10.1136\/bcr-2012-006959"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-006959","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,27]]}}}