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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

1 Jan 2023

Abstract excerpt

Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal...

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PMID: 38091267
DOI: 10.1590/1678-4685-gmb-2023-0126

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