Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

• Main Authors: Jaime E. Hale (Author), Basil T. Darras (Author), Kathryn J. Swoboda (Author), Elicia Estrella (Author), Jin Yun Helen Chen (Author), Mary-Alice Abbott (Author), Beverly N. Hay (Author), Binod Kumar (Author), Anne M. Counihan (Author), Jacalyn Gerstel-Thompson (Author), Inderneel Sahai (Author), Roger B. Eaton (Author), Anne Marie Comeau (Author)
• 格式: 图书
• 出版: MDPI AG, 2021-05-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

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>...