Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to optimize health outcomes for affected...

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Detalles Bibliográficos
Autores principales: Niri, Farshad, Nicholls, Jessie, Baptista Wyatt, Kelly, Walker, Christine, Price, Tiffany, Kelln, Rhonda, Hume, Stacey, Parboosingh, Jillian, Lilley, Margaret, Kolski, Hanna, Ridsdale, Ross, Muranyi, Andrew, Mah, Jean K., Bulman, Dennis E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443376/
https://www.ncbi.nlm.nih.gov/pubmed/37606479
http://dx.doi.org/10.3390/ijns9030042

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