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Cardiol."],"abstract":"<jats:p>Resumo A Doen\u00e7a de Fabry (DF) \u00e9 uma condi\u00e7\u00e3o gen\u00e9tica ligada ao cromossomo X, causada por variantes no gene GLA, que resultam na defici\u00eancia da enzima \u03b1-galactosidase A e no ac\u00famulo de globotriaosilceramida (Gb3) em tecidos como o cora\u00e7\u00e3o, rins e sistema nervoso. Este estudo relata uma s\u00e9rie de casos envolvendo pacientes diagnosticados com DF, destacando a diversidade fenot\u00edpica da doen\u00e7a, que pode ser confundida com outras condi\u00e7\u00f5es cardiol\u00f3gicas. A avalia\u00e7\u00e3o gen\u00e9tica, aliada \u00e0 dosagem de biomarcadores e \u00e0 atividade enzim\u00e1tica da \u03b1-galactosidase, quando bem indicadas, \u00e9 essencial para o diagn\u00f3stico preciso. O diagn\u00f3stico precoce da DF \u00e9 fundamental para a implementa\u00e7\u00e3o de tratamentos que retardem a sua progress\u00e3o, al\u00e9m de evitar complica\u00e7\u00f5es graves, refor\u00e7ando a necessidade de maior conscientiza\u00e7\u00e3o entre os cardiologistas sobre essa condi\u00e7\u00e3o.<\/jats:p>","DOI":"10.36660\/abc.20240535","type":"journal-article","created":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T14:27:55Z","timestamp":1742912875000},"source":"Crossref","is-referenced-by-count":0,"title":["Doen\u00e7a de Fabry e seus Diferentes Fen\u00f3tipos"],"prefix":"10.36660","volume":"122","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8071-924X","authenticated-orcid":false,"given":"Murillo Oliveira","family":"Antunes","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil; Universidade S\u00e3o Francisco,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-0241-5535","authenticated-orcid":false,"given":"Rafael Ruas","family":"Nastari","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edmundo","family":"Arteaga-Fernandez","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1246-4838","authenticated-orcid":false,"given":"Marcelle G. 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