A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned

Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting in progressive symmetrical weakness and atrophy of...

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Detalhes bibliográficos

Principais autores:	Kristen N. Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J. Butterfield
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2024-07-01
coleção:	International Journal of Neonatal Screening
Assuntos:	spinal muscular atrophy newborn screening outcomes
Acesso em linha:	https://www.mdpi.com/2409-515X/10/3/54
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