ArticleMedical sciences (Basel, Switzerland)2024
Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: Case Reports.
Article in Medical sciences (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
3 citing papers in PubMed.
- Hereditary transthyretin amyloid cardiomyopathy caused by the rare TTR p.Ser43Asn variant in an Asian family: a case report.Frontiers in cardiovascular medicine · 2026Article
- Poor Outcome of the p.Ser43AsnInternational journal of heart failure · 2025Article
- Case report and literature review of transthyretin amyloidosis with p.Ser43Asn mutation presenting in China.Frontiers in cardiovascular medicine · 2025Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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-given analysis of family trees-that 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.
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