Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy...

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Detalles Bibliográficos
Autores principales: Glascock, Jacqueline, Sampson, Jacinda, Haidet-Phillips, Amanda, Connolly, Anne, Darras, Basil, Day, John, Finkel, Richard, Howell, R. Rodney, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2018
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004919/
https://www.ncbi.nlm.nih.gov/pubmed/29614695
http://dx.doi.org/10.3233/JND-180304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004919/
https://www.ncbi.nlm.nih.gov/pubmed/29614695
http://dx.doi.org/10.3233/JND-180304

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