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Marco Spada

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Open access Oct 2026

Novel GLA Variants: 10 Experts’ Tips for the Clinical Assessment of Fabry Disease

The increasing use of next-generation sequencing (NGS), including multigene panels and exome and genome sequencing, has led to increased identification of rare and previously unreported variants in Mendelian disorders, though evidence supporting their clinical interpretation remains limited. In Fabry disease (FD), this...

F. Pieruzzi, R. Mignani, S. Feriozzi et al. · 0 citations
#protein folding Open access Sep 2026

Molecular and Structural Characterization of Five Novel GLA Gene Variants in Fabry Disease

Overall, these findings support an effect of the five variants on α-galactosidase A structure and function and highlight the value of integrating clinical, genetic, biochemical, and computational data for variant interpretation.

Monia Anania, V. Pagliardini, Marco Spada et al. · 0 citations

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