{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:03:54Z","timestamp":1761102234011,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G&gt;T (p.E203X) of the &lt;i&gt;GLA&lt;\/i&gt; gene, which occurs in the active site of the \u03b1-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family.<\/jats:p>","DOI":"10.1159\/000455117","type":"journal-article","created":{"date-parts":[[2017,2,8]],"date-time":"2017-02-08T12:59:49Z","timestamp":1486558789000},"page":"67-73","source":"Crossref","is-referenced-by-count":5,"title":["Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the &lt;b&gt;&lt;i&gt;GLA&lt;\/i&gt;&lt;\/b&gt; Gene Associated with the Classical Phenotype of Fabry Disease"],"prefix":"10.1159","volume":"137","author":[{"given":"Olga","family":"Azevedo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Gago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Miltenberger-Miltenyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo","family":"Gaspar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuno","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dami\u00e3o","family":"Cunha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,2,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0296-8"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065904"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036327"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012993305223"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102872"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-013-9613-3"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101857"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu284"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehs397"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2005.063818"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-007-9128-x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12613"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2014-306278"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455117","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455117","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:07:17Z","timestamp":1745428037000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000455117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,5,11]]}},"URL":"https:\/\/doi.org\/10.1159\/000455117","archive":["Portico"],"relation":{},"ISSN":["0008-6312","1421-9751"],"issn-type":[{"type":"print","value":"0008-6312"},{"type":"electronic","value":"1421-9751"}],"subject":[],"published":{"date-parts":[[2017]]}}}