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Heterozygous familial hypercholesterolemia in Italian children: a road map through a single center’s experience

Daniele Perrino Delia Monopoli D. Verrigni E. Lorefice M. Macchiaiolo M. Gonfiantini D. Vecchio R. Taurisano A. Novelli Andrea Bartuli Maria Gnazzo P. Buonuomo
Oct 2026 · European Journal of Pediatrics · Vol 185 · 0 citations · 17 references
Medicine

TL;DR

The findings support the clinical value of genetic testing in familial hypercholesterolemia, both for improving diagnostic accuracy and for promoting earlier therapeutic intervention and adherence.

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