Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

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 <i>...

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Bibliographic Details
Main Authors: Jaime E. Hale, Basil T. Darras, Kathryn J. Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N. Hay, Binod Kumar, Anne M. Counihan, Jacalyn Gerstel-Thompson, Inderneel Sahai, Roger B. Eaton, Anne Marie Comeau
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
Spinal Muscular Atrophy
<i>SMN1</i> gene
<i>SMN2</i> gene
Online Access:https://www.mdpi.com/2409-515X/7/2/26

Internet

https://www.mdpi.com/2409-515X/7/2/26

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