Fujita Health University · Faculty of Medicine / Graduate School of Medicine

Research keywordspropionic acidemia・urea cycle disorders・inherited metabolic disease・dilated cardiomyopathy・phosphoglucomutase 1 deficiency・arginase 1 deficiency・maple syrup urine disease・pharmacogenetic toxicity・hypophosphatasia・steroid-dependent nephrotic syndrome

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• Improvement of propionic acidemia-associated dilated cardiomyopathy through nutritional adjustment and heart failure medication: A case report.2025 · Journal of cardiology cases
• Interventionally targeting somatic CAG expansions can be a rapid disease-modifying therapeutic avenue: Preclinical evidence.2025 · bioRxiv : the preprint server for biology
• C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.2024 · NAR molecular medicine
• 家族歴により超早期に急性期治療を開始した新生児尿素サイクル異常症の2例2023 · 日本小児科学会雑誌

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