Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon...

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Vydáno v:Int J Neonatal Screen
Hlavní autoři: Hale, Jaime E., Darras, Basil T., Swoboda, Kathryn J., Estrella, Elicia, Chen, Jin Yun Helen, Abbott, Mary-Alice, Hay, Beverly N., Kumar, Binod, Counihan, Anne M., Gerstel-Thompson, Jacalyn, Sahai, Inderneel, Eaton, Roger B., Comeau, Anne Marie
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8162354/
https://ncbi.nlm.nih.gov/pubmed/34071063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns7020026
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