Jichi Medical University · Faculty of Medicine, Department of Pediatrics · 助教

Research keywordsMitochondrial disease・Coenzyme Q10 deficiency・Leigh syndrome・Ferroptosis・Neurogenetics・Gene therapy

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• NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model
• Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1.
• Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.
• A Pediatric Case of Wheat-Dependent, Exercise-Induced Anaphylaxis Solely Associated with High-Molecular-Weight Glutenin.

• Niemann-Pick病C型の診断と治療効果判定のための新規バイオマーカー探索

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