Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community

Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 (<i>SMN1</i>) gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are crit...

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Bibliographic Details
Main Authors: Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García, José M. Millán
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:International Journal of Neonatal Screening
Subjects:
spinal muscular atrophy
<i>SMN1</i>
newborn screening
dried blood spot
multiplex qPCR
Online Access:https://www.mdpi.com/2409-515X/11/1/7
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