P.072 Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS) – 2022 results

Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic mutations of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening and presymptomatic treatment are essential to optimize health outcomes for affected individuals. Methods: W...

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Veröffentlicht in:	Canadian journal of neurological sciences 2023-06, Vol.50 (s2), p.S78-S78
Hauptverfasser:	Mah, JK, Price, TR, Kolski, H, Ridsdale, R, Parboosingh, J, Niri, F
Format:	Artikel
Sprache:	eng
Schlagworte:	Abstracts Child Neurology (CACN) Medical screening Neuromuscular Disease and EMG Newborn babies Poster Presentations
Online-Zugang:	Volltext
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