{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:15:15Z","timestamp":1789784115128,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,10,8]],"date-time":"2009-10-08T00:00:00Z","timestamp":1254960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Cardiology"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 14\u2010year\u2010old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life\u2010threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery. Copyright \u00a9 2009 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/clc.20348","type":"journal-article","created":{"date-parts":[[2009,10,8]],"date-time":"2009-10-08T20:06:53Z","timestamp":1255032413000},"source":"Crossref","is-referenced-by-count":27,"title":["Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement"],"prefix":"10.1002","volume":"33","author":[{"given":"N.","family":"Cindik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Ozcay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"S\u00fcren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Akkoyun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"G\u00f6kdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Varan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Alehan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ozbek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Tokel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"2641","volume-title":"The Metabolic Basis of Inherited Disease","author":"Beutler E","year":"1995"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.015"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1992.tb05109.x"},{"key":"e_1_2_1_5_2","first-page":"211","article-title":"Gaucher's disease with valve calcification: possible role of Gaucher cells, bone matrix proteins and integrins","volume":"15","author":"Veinot JP","year":"1999","journal-title":"Can J Cardiol"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(75)90468-3"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000064674"},{"key":"e_1_2_1_8_2","first-page":"82","article-title":"Vascular involvement in type 3 neuronopathic Gaucher's disease","volume":"109","author":"Wilson ER","year":"1985","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.109789"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(99)00140-X"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91688-1"},{"key":"e_1_2_1_12_2","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1007\/BF00788233","article-title":"Gaucher's disease with mitral and aortic involvement: echocardiographic findings","volume":"13","author":"Sara\u00e7lar M","year":"1991","journal-title":"Pediatr Cardiol"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.740"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00798223"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590511.x"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.112171"}],"container-title":["Clinical Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fclc.20348","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/clc.20348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T14:47:04Z","timestamp":1700578024000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/clc.20348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1002\/clc.20348"],"URL":"https:\/\/doi.org\/10.1002\/clc.20348","archive":["Portico"],"relation":{},"ISSN":["0160-9289","1932-8737"],"issn-type":[{"value":"0160-9289","type":"print"},{"value":"1932-8737","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}