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
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the 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 carrie...
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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
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TN_cdi_doaj_primary_oai_doaj_org_article_3de29aa518b249c7a6efafb56d7501d9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3de29aa518b249c7a6efafb56d7501d9
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ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns11010007
