ArticleGenes2025
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.Current issues in molecular biology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
objectivesAnderson-Fabry disease (AFD) presents with a wide spectrum of clinical manifestations, influenced by the underlying
methodsIn this single-centre retrospective study, we evaluated 42 patients with genetically confirmed AFD, stratified into classical, late-onset, and VUS categories. Cardiovascular involvement was assessed using three standardized staging tools-Del Franco, Meucci, and MSSI-and correlated with the occurrence and burden of major adverse cardiovascular events (MACE). Multivariable analyses were performed to adjust for age, sex, and treatment status.
resultsClassical variants were strongly associated with more advanced cardiac staging (Del Franco, Meucci) and higher MSSI scores, reflecting systemic disease severity. These patients experienced significantly more frequent and severe MACE (
conclusionsThis study highlights the role of
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