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The follow\u2010up part of the Fabry Disease in Ostrobothnia (FAST) study reports the long\u2010term effect of enzyme replacement therapy (ERT) on a prospectively collected cohort of 12 patients, 4 males and 8 females, mean age 46\u2009years (SD 16), with the classical variant c.679C\u2009&gt;\u2009T p.Arg227Ter, which is one of the most common FD variants worldwide. In the natural history period of the FAST study, half of the patients in both sexes had at least one major event, of which 80% were of cardiac origin. During 5\u2009years of ERT, four patients had a total of six major clinical events consisting of one silent ischemic stroke, three ventricular tachycardias and two increased left ventricular mass indexes. In addition, four patients developed minor cardiac events, four patients minor renal events, and one patient a minor neurological event. ERTs may delay but not prevent the progression of the disease in most patients with the variant Arg227Ter. This variant might be suitable for investigating the efficacy of second\u2010generation ERTs compared to the currently used ERTs regardless of sex.<\/jats:p>","DOI":"10.1002\/ajmg.a.63216","type":"journal-article","created":{"date-parts":[[2023,4,20]],"date-time":"2023-04-20T17:38:47Z","timestamp":1682012327000},"page":"1858-1869","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Long\u2010term effectiveness of enzyme replacement therapy in Fabry disease with the p.Arg227Ter variant: Fabry disease in Ostrobothnia (FAST) study"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4502-8934","authenticated-orcid":false,"given":"P\u00e4ivi","family":"Pietil\u00e4\u2010Effati","sequence":"first","affiliation":[{"name":"Department of Cardiology Vaasa Central Hospital  Vaasa Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jukka T.","family":"Saarinen","sequence":"additional","affiliation":[{"name":"Department of Neurology Vaasa Central Hospital  Vaasa Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliisa","family":"L\u00f6yttyniemi","sequence":"additional","affiliation":[{"name":"Department of Biostatistics University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Saarenhovi","sequence":"additional","affiliation":[{"name":"Department of Clinical Physiology and Nuclear Medicine Turku University Hospital, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reijo","family":"Autio","sequence":"additional","affiliation":[{"name":"Department of Radiology Vaasa Central Hospital  Vaasa Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilkka","family":"Kantola","sequence":"additional","affiliation":[{"name":"Division of Medicine Turku University Hospital, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,20]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcad.2022.08.003"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0182379"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104863"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016090964"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.05.001"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmg.2012.06.003"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.122"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCIMAGING.118.008424"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/hc0402.102975"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2012.00002"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2010.1768"},{"key":"e_1_2_13_14_1","first-page":"3733","volume-title":"Teoksessa. 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