Kumamoto University · Research Division of Life Sciences

Research keywordsnewborn screening・Fabry disease・spinal muscular atrophy・severe combined immunodeficiency・metabolic genetics

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• Newborn screening for spinal muscular atrophy: The potential of digital polymerase chain reaction technique.2025 · Molecular genetics and metabolism
• Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis2025 · Molecular Genetics and Metabolism Reports
• 熊本大学病院新生児センターにおける先天異常に対する遺伝学的検査と出生前診断2025 · 日本小児科学会雑誌
• T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan2025 · Cell Biochemistry and Biophysics

• 血漿Lyso-Gb3と血管内皮細胞解析を駆使した新しいファブリー病診断システムの構築2023 · 科学研究費助成事業
• ポンペ病の新生児スクリーニングにおける乳児型ポンペ病のリスク評価システムの構築2023 · 科学研究費助成事業

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