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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Bibliografski detalji
Izdano u:J Neuromuscul Dis
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: IOS Press 2018
Teme:
Research Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6004919/
https://ncbi.nlm.nih.gov/pubmed/29614695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-180304
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