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Author

Yuichi Abe

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Open access Aug 2026

Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control

Newborn screening (NBS) facilitates the presymptomatic diagnosis and early treatment of spinal muscular atrophy (SMA). An analytical study was conducted to evaluate the performance and limitations of a real-time polymerase chain reaction-based SMA-NBS assay. Dried blood spot specimens collected from 21 newborns and thr...

Yuichi Abe, Sato Suzuki-Muromoto, M. Kosuga et al. · 0 citations

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