{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:19:50Z","timestamp":1761718790426,"version":"3.37.3"},"reference-count":30,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,5,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2018-0549_s_999\">\n<jats:title id=\"d2783957e42984\">Background<\/jats:title>\n<jats:p>Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (<jats:italic>GBA<\/jats:italic>) gene, which encodes acid \u03b2-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0549_s_998\">\n<jats:title id=\"d2783957e42996\">Case presentation<\/jats:title>\n<jats:p>We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case\u2019s liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0549_s_997\">\n<jats:title id=\"d2783957e43004\">Conclusions<\/jats:title>\n<jats:p>Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0549","type":"journal-article","created":{"date-parts":[[2019,4,26]],"date-time":"2019-04-26T09:04:42Z","timestamp":1556269482000},"page":"533-536","source":"Crossref","is-referenced-by-count":7,"title":["Two siblings with Gaucher type 3c: different clinical presentations"],"prefix":"10.1515","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6533-6256","authenticated-orcid":false,"given":"Miray","family":"Karakoyun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9175-1998","authenticated-orcid":false,"given":"Ebru","family":"Canda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5842-0292","authenticated-orcid":false,"given":"Ezgi","family":"Kiran Tasci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0340-7741","authenticated-orcid":false,"given":"Eser","family":"Dogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6494-9539","authenticated-orcid":false,"given":"Mahmut","family":"Coker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1678-7552","authenticated-orcid":false,"given":"Sema","family":"Aydogdu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref41","first-page":"261","article-title":"Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type 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