Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality with an incidence of 1:10,000. The recently-introduced antisense oligonucleotide treatment improves the outcome of this disease, in particular when applied at an early stage of progression. The genetic cause of SM...

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Detalles Bibliográficos
Autores principales: Strunk, Annuska, Abbes, Andre, Stuitje, Antoine R., Hettinga, Chris, Sepers, Eline M., Snetselaar, Reinier, Schouten, Jan, Asselman, Fay-Lynn, Cuppen, Inge, Lemmink, Henny, van der Pol, W. Ludo, Engel, Henk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510214/
https://www.ncbi.nlm.nih.gov/pubmed/33072980
http://dx.doi.org/10.3390/ijns5020021

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