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

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 <i>survival motor neuron 1</i> (<i>SMN1</i>) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to...

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Bibliographic Details
Main Authors: Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:International Journal of Neonatal Screening
Subjects:
SMA
newborn screening
<i>SMN1</i>
multiplex qPCR
gene therapy
Online Access:https://www.mdpi.com/2409-515X/9/3/42

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https://www.mdpi.com/2409-515X/9/3/42

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