Article

Outcomes of A Pilot Newborn Screening Program for Spinal Muscular Atrophy in A Spanish Region

2024-12-03

Abstract excerpt

Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of survival motor neuron 1 (SMN1) gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon s...

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Literature Corpus work: 8438026f-8ec1-5f32-9336-fe373e0f2455
DOI: 10.20944/preprints202412.0070.v1

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