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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Bibliografiset tiedot
Julkaisussa:J Neuromuscul Dis
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: IOS Press 2018
Aiheet:
Research Report
Linkit: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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