Author

Cristina Chimenti

2 papers indexed here

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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. · Journal of Clinical Medicine · 0 citations

Open access Sep 2026

Noninvasive Characterization of Myocardial Diseases With Hypertrophic Phenotypes Using Integrated ECG/Echocardiographic Indices.

BACKGROUND Indices reflecting the discordance between QRS complex voltages on ECG and left ventricular (LV) wall thickness or LV mass index on echocardiogram (echo) have enabled identification of cardiac amyloidosis (CA) among patients with hypertrophic hearts. However, this evidence comes from studies that have exclud...

Valentina Allegro, L. Pagura, A. Porcari et al. · Journal of the American Hear... · 0 citations