{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T07:18:43Z","timestamp":1780730323221,"version":"3.54.1"},"reference-count":11,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T00:00:00Z","timestamp":1395100800000},"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":["Ann Clin Biochem"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>Niemann\u2013Pick disease, type B (NPD-B; OMIM 607616) is an inborn error of metabolism where reduced concentrations of the enzyme acid sphingomyelinase (ASM; EC 3.1.4.12) lead to multisystem disease though with survival into adulthood. The natural history of NPD-B is one of progressive hypersplenism and gradual deterioration of pulmonary function. We describe a 46-year-old South African man of French Huguenot descent who presented to a lipid disorders clinic with mixed hyperlipidaemia. Clinical examination and imaging findings revealed the presence of massive hepatosplenomegaly, interstitial lung disease and subclinical atherosclerosis; there were no neurological or cognitive abnormalities. Laboratory testing showed thrombocytopaenia, increased liver transaminases and mild hyperbilirubinaemia. Lysosomal enzyme analysis showed markedly reduced ASM activity, suggestive of NPD. DNA sequence analysis of the SMPD1 gene revealed that he was a compound heterozygote for the previously reported c.1829_1831delGCC (\u0394R608) mutation and a novel missense mutation c.1378A\u2009&gt;\u2009C (p.T460P). In conclusion, we describe the clinical findings of a case of NPD-B with mixed hyperlipidaemia, compound heterozygous for the SMPD1 \u0394R608 mutation and a novel mutation, T460P.<\/jats:p>","DOI":"10.1177\/0004563214527067","type":"journal-article","created":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T22:44:20Z","timestamp":1395182660000},"page":"615-618","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel missense\n                    <i>SMPD1<\/i>\n                    gene mutation, T460P, and clinical findings in a patient with Niemann\u2013Pick disease type B presenting to a lipid disorders clinic"],"prefix":"10.1177","volume":"51","author":[{"given":"Yael","family":"Grasko","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia"},{"name":"Lipid Disorders Clinic, Royal Perth Hospital, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda J","family":"Hooper","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia"},{"name":"School of Medicine and Pharmacology, University of Western Australia, Royal Perth Hospital, Perth, Australia"},{"name":"School of Pathology and Laboratory Medicine, University of Western Australia, Royal Perth Hospital, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R","family":"Burnett","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia"},{"name":"Lipid Disorders Clinic, Royal Perth Hospital, Perth, Australia"},{"name":"School of Medicine and Pharmacology, University of Western Australia, Royal Perth Hospital, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald F","family":"Watts","sequence":"additional","affiliation":[{"name":"Lipid Disorders Clinic, Royal Perth Hospital, Perth, Australia"},{"name":"School of Medicine and Pharmacology, University of Western Australia, Royal Perth Hospital, Perth, Australia"},{"name":"Department of Internal Medicine, Royal Perth Hospital, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,3,18]]},"reference":[{"key":"bibr1-0004563214527067","first-page":"3589","volume-title":"The metabolic and molecular bases of inherited disease","author":"Schuchman EH","year":"2001","edition":"8"},{"key":"bibr2-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2009.11.083"},{"key":"bibr3-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0887"},{"key":"bibr4-0004563214527067","first-page":"S48","volume":"47","author":"Schuchman EH","year":"2009","journal-title":"Int J Clin Pharmacol Ther"},{"key":"bibr5-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115380"},{"key":"bibr6-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1086\/345074"},{"key":"bibr7-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-008-0648-8"},{"key":"bibr8-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.02.048"},{"key":"bibr9-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2185"},{"key":"bibr10-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0893-1"},{"key":"bibr11-0004563214527067","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M500487-JLR200"}],"container-title":["Annals of Clinical Biochemistry: International Journal of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0004563214527067","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0004563214527067","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0004563214527067","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T12:21:44Z","timestamp":1777378904000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0004563214527067"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,18]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1177\/0004563214527067"],"URL":"https:\/\/doi.org\/10.1177\/0004563214527067","relation":{},"ISSN":["0004-5632","1758-1001"],"issn-type":[{"value":"0004-5632","type":"print"},{"value":"1758-1001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,18]]}}}