{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T02:09:48Z","timestamp":1772849388011,"version":"3.50.1"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,6,26]],"date-time":"2006-06-26T00:00:00Z","timestamp":1151280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We present the third case of Niemann\u2013Pick disease type C without neurological symptoms. The patient was a 53\u2010year\u2010old woman without significant prior health problems who died of acute pulmonary embolism. Autopsy findings of hepatosplenomegaly, lymphadenopathy and ceroid\u2010rich foam cells raised the suspicion of the visceral form of acid sphingomyelinase deficiency (Niemann\u2013Pick disease type B; NPB) or a much rarer disorder, variant adult visceral form of Niemann\u2013Pick disease type C (NPC). To verify the histopathological findings, <jats:italic>SMPD1<\/jats:italic>, <jats:italic>NPC1<\/jats:italic> and <jats:italic>NPC2<\/jats:italic> genes were analysed. Two novel sequence variants, c.1997G&gt;A (S666N) and c.2882A&gt;G (N961S) were detected in the <jats:italic>NPC1<\/jats:italic> gene. No pathogenic sequence variants were found either in the <jats:italic>SMPD1<\/jats:italic> gene mutated in NPB or in <jats:italic>NPC2<\/jats:italic> gene. The pathogenicity of both <jats:italic>NPC1<\/jats:italic> variants was supported by their location in regions important for the protein function. Both variations were not found in more than 300 control alleles. Identified sequence variations confirm the diagnosis of the extremely rare adult visceral form of Niemann\u2013Pick disease type C, which is otherwise dominated by neurovisceral symptoms. Although only three patients have been reported, this (most probably underdiagnosed) form of NPC should be considered in differential diagnosis of isolated hepatosplenomegaly with foam cells in adulthood.<\/jats:p>","DOI":"10.1007\/s10545-006-0330-z","type":"journal-article","created":{"date-parts":[[2006,6,26]],"date-time":"2006-06-26T16:30:32Z","timestamp":1151339432000},"page":"591-591","source":"Crossref","is-referenced-by-count":23,"title":["Subclinical course of adult visceral Niemann\u2013Pick type C1 disease. A rare or underdiagnosed disorder?"],"prefix":"10.1002","volume":"29","author":[{"given":"L.","family":"Dvorakova","sequence":"first","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University, First Faculty of Medicine and University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Sikora","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University, First Faculty of Medicine and University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hrebicek","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University, First Faculty of Medicine and University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Hulkova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University, First Faculty of Medicine and University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Bouckova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University, First Faculty of Medicine and University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Stolnaja","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University, First Faculty of Medicine and University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Elleder","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University, First Faculty of Medicine and University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,6,26]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0330-z","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0330-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:54:31Z","timestamp":1694782471000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0330-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,26]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["10.1007\/s10545-006-0330-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0330-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,26]]}}}