{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:18Z","timestamp":1753869738590,"version":"3.41.2"},"reference-count":35,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,8,14]],"date-time":"2019-08-14T00:00:00Z","timestamp":1565740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi-Genzyme"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fabry disease is caused by a deficient or an absent alfa\u2010galactosidase A activity and is an X\u2010linked disorder that results in organ damage and a shortened life span, especially in males. The severity of the disease depends on the type of mutation, gender, skewed X\u2010chromosome inactivation, and other still unknown factors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this article, we describe the natural course of a common classic Fabry disease mutation, p.Arg227Ter or p.R227*, in Finland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four males and ten females belonged to two extended families. The mean age was 46\u00a0years (SD 18.4). Six patients (43%) had cardiac hypertrophy, three patients (21%) had ischemic stroke, and none had severe kidney dysfunction. Three patients had atrial fibrillation; two patients who had atrial fibrillation also had pacemakers. All males over 30\u00a0years of age had\u00a0at least one of the following manifestations: cardiac hypertrophy, stroke, or proteinuria. In females, the severity of Fabry disease varied from classic multiorgan disease to a condition that mimicked the attenuated cardiac variant. No one was totally asymptomatic without any signs of Fabry disease. Cardiac magnetic resonance imaging was performed on nine of 14 patients was the most sensitive for detecting early cardiac manifestations. Five patients (55%) had late gadolinium enhancement\u2010positive segments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Cardiac involvement should be effectively detected in females before considering them asymptomatic mutation carriers.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.930","type":"journal-article","created":{"date-parts":[[2019,8,14]],"date-time":"2019-08-14T08:11:11Z","timestamp":1565770271000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study"],"prefix":"10.1002","volume":"7","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":"Reijo","family":"Autio","sequence":"additional","affiliation":[{"name":"Department of Radiology Vaasa Central Hospital Vaasa 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":"Maria K.","family":"Haanp\u00e4\u00e4","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Turku University Hospital Turku 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":[[2019,8,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016090964"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0253-6"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0521-2"},{"issue":"6","key":"e_1_2_9_6_1","first-page":"1186","article-title":"Nature and frequency of mutations in the alpha\u2010galactosidase A gene that cause Fabry disease","volume":"53","author":"Eng C. M.","year":"1993","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejechocard\/jen174"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.149.2.351"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0091757"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318183f132"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/10976640500295516"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.10.064"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2008.03.007"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12968-015-0114-4"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/ehjci\/jew187"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0193550"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0473-4"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmg.2011.01.020"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.116.001691"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-008-0651-4"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161330"},{"key":"e_1_2_9_25_1","unstructured":"Roberto G. Michael B. Derralynn H. et al. (2019).Classification of genetic variant in patients with fabry disease enrolled in the fabry outcome survey (FOS)."},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2014.07.021"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2009.01.003"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.115.002839"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2018.01.006"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.08.004"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_342"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199102073240607"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bb05bb"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00219.x"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.930","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.930","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.930","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.930","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T10:55:02Z","timestamp":1708512902000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.930"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,14]]},"references-count":35,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1002\/mgg3.930"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.930","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2019,8,14]]},"assertion":[{"value":"2019-04-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e00930"}}