{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T17:29:44Z","timestamp":1781544584638,"version":"3.54.5"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,9,9]],"date-time":"2018-09-09T00:00:00Z","timestamp":1536451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"publisher","award":["BMRP274"],"award-info":[{"award-number":["BMRP274"]}],"id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"publisher","award":["CMRPG3E2131"],"award-info":[{"award-number":["CMRPG3E2131"]}],"id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"publisher","award":["CMRPG3F221"],"award-info":[{"award-number":["CMRPG3F221"]}],"id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Fabry disease is an X\u2010linked disease, and enzyme\u2010based screening methods are not suitable for female patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In total, 1000 young stroke patients (18\u201355\u00a0years, 661 with ischaemic stroke and 339 with hypertensive intracerebral hemorrhage) were recruited. The Sequenom <jats:styled-content style=\"fixed-case\">iPLEX<\/jats:styled-content> assay was used to detect 26 Fabry related mutation genes. The frequency of Fabry disease in young stroke was reviewed and compared between Asian and non\u2010Asian countries.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two male patients with ischaemic stroke were found to have a genetic mutation of <jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content>4+919G&gt;A. There was no \u03b1\u2010galactosidase A (<jats:italic><jats:styled-content style=\"fixed-case\">GLA<\/jats:styled-content><\/jats:italic>) gene mutation in female patients. The frequency in Asian stroke patients was 0.62% (male vs. female\u00a00.63% vs. 0.58%) with 0.72% for ischaemic stroke and none for hemorrhagic stroke, compared to 0.88% (0.77% vs. 1.08%) with 0.83% for ischaemic stroke and 1.40% for hemorrhagic stroke reported in western countries.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content>4+919G&gt;A is the <jats:italic><jats:styled-content style=\"fixed-case\">GLA<\/jats:styled-content><\/jats:italic> mutation in Taiwanese young ischaemic stroke patients. Fabry disease is more frequent among non\u2010Asian patients compared to Asian patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13775","type":"journal-article","created":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T21:24:47Z","timestamp":1534195487000},"page":"553-555","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3935-5963","authenticated-orcid":false,"given":"T.\u2010H.","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Neurology Linkou Chang Gung Memorial Hospital Taoyuan Taiwan"},{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010T.","family":"Yang","sequence":"additional","affiliation":[{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"},{"name":"Department of Neurosurgery Chiayi Chang Gung Memorial Hospital Chiayi Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010D.","family":"Lee","sequence":"additional","affiliation":[{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"},{"name":"Department of Neurology Chiayi Chang Gung Memorial Hospital Chiayi Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.\u2010C.","family":"Chang","sequence":"additional","affiliation":[{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"},{"name":"Department of Neurology Kaohsiung Chang Gung Memorial Hospital Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.\u2010I.","family":"Peng","sequence":"additional","affiliation":[{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"},{"name":"Department of Neurology Keelung Chang Gung Memorial Hospital Keelung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.\u2010Y.","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Neurology Linkou Chang Gung Memorial Hospital Taoyuan Taiwan"},{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.\u2010L.","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology Linkou Chang Gung Memorial Hospital Taoyuan Taiwan"},{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8965-2096","authenticated-orcid":false,"given":"C.\u2010H.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology Linkou Chang Gung Memorial Hospital Taoyuan Taiwan"},{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.\u2010J.","family":"Ryu","sequence":"additional","affiliation":[{"name":"Department of Neurology Linkou Chang Gung Memorial Hospital Taoyuan Taiwan"},{"name":"College of Medicine Chang Gung University Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. P.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Neurological Unit St Bassiano Hospital Bassano del Grappa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21074"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13254"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.02.004"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-6646(11)60081-8"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.0000021409.16314.16"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A4677"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.09.008"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-017-0810-9"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.13775","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13775","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.13775","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13775","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T20:40:31Z","timestamp":1694292031000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.13775"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,9]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1111\/ene.13775"],"URL":"https:\/\/doi.org\/10.1111\/ene.13775","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,9]]},"assertion":[{"value":"2018-02-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}