{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T14:24:17Z","timestamp":1780928657883,"version":"3.54.1"},"reference-count":23,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T00:00:00Z","timestamp":1729468800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>More than approximately 120 transthyretin mutations are known. Their clinical presentation is heterogeneous, as the course of disease onset depends on genetic variation and level of penetrance. They are little known in Ecuador, and some of the reported cases suggest\u2014given analysis of family trees\u2014that they come from a province that is possibly considered endemic. The main objective of this study is to perform a descriptive observational analysis on the presentation of transthyretin amyloidosis in families carrying the p.Ser43Asn gene of the identified index case.<\/jats:p>","DOI":"10.3390\/medsci12040058","type":"journal-article","created":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T09:58:24Z","timestamp":1729504704000},"page":"58","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: Case Reports"],"prefix":"10.3390","volume":"12","author":[{"given":"Diana Elizabeth","family":"Luzuriaga Carpio","sequence":"first","affiliation":[{"name":"Hospital General Manuel Ygnacio Monteros-IESS, Loja 110150, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borys Roberto","family":"Abrigo Maldonado","sequence":"additional","affiliation":[{"name":"Heredity S.A., Quito 170135, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1654-4531","authenticated-orcid":false,"given":"Humberto","family":"Villacorta","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Universidad Federal Fluminense, Niter\u00f3i 24020-141, R\u00edo de Janeiro, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1097\/WCO.0000000000000290","article-title":"Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis","volume":"29","author":"Obici","year":"2016","journal-title":"Curr. 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