Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in Japan, its clinical results have not been fully reported. We report the findings of the ini...

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Bibliographic Details
Main Authors: Shoko Sonehara, Ryosuke Bo, Yoshinori Nambu, Kiiko Iketani, Tomoko Lee, Hideki Shimomura, Masaaki Ueda, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hisahide Nishio, Hiroyuki Awano
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
spinal muscular atrophy
newborn screening
<i>SMN2</i> copy number
hybrid gene
Online Access:https://www.mdpi.com/2073-4425/14/12/2211

Internet

https://www.mdpi.com/2073-4425/14/12/2211

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