Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives

Three targeted therapies are currently available for spinal muscular atrophy (SMA), which have dramatically changed the natural history of this severe and potentially fatal disease. More than 95% of SMA cases have a homozygous deletion of exon 7 of the <i>SMN1</i> gene. Disease expressio...

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Bibliographic Details

Published in:	International Journal of Neonatal Screening
Main Authors:	Adelaide Ambrosio, Tiziana Fioretti, Barbara D’Andrea, Lucia Pezone, Ilaria Bitetti, Carmela Di Domenico, Sabrina Vallone, Valeria Maiolo, Angela Cioce, Mariano Giustino, Antonio Varone, Gabriella Esposito
Format:	Article
Language:	English
Published:	MDPI AG 2025-08-01
Subjects:	spinal muscular atrophy newborn screening carrier screening targeted therapy
Online Access:	https://www.mdpi.com/2409-515X/11/3/64