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Author

Nobuyuki Ishige

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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
Review Open access Sep 2026

Role of the Gut–Liver–Kidney Axis in Disease Manifestation and Biomarker Alterations

Biomarkers with potential for use in clinical diagnosis have been widely studied using biochemical techniques. In particular, endogenous and exogenous metabolites have been targeted in clinical settings. Both types of metabolites are either unmetabolized, metabolized with human enzymes, or metabolized with host-residen...

R. Mashima, Nobuyuki Ishige · 0 citations

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