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Author

F. Perretta

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Open access Sep 2026

Case Report: Fabry cardiomyopathy associated with a novel truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter)

We report the comprehensive clinical characterization of a woman with Fabry disease (FD) carrying a previously unreported truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter). The patient, a 52-year-old woman with longstanding hypertrophic cardiomyopathy, was referred to a specialized Fabry Disease Program to i...

F. Perretta, E. Zurita, M. Ortiz et al. · 0 citations

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