Kumamoto University · Research Division of Life Sciences · 准教授

Research keywords有機酸尿症・尿素サイクル異常症・新生児低酸素性虚血性脳症・Wiedemann-Steiner症候群・早産児・薬理学的シャペロン・糖脂質蓄積疾患

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• Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.2026 · Human genome variation
• Intracranial hemorrhage identified after initiating therapeutic hypothermia: two case reports of neonatal hypoxic-ischemic encephalopathy due to hypovolemic shock with anemia: a case report.2026 · Journal of medical case reports
• Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.2025 · Journal of inherited metabolic disease
• Successful Pediatric Living Donor Liver Transplantation for Acute Liver Failure Due to Non-transplant-Related Severe Sinusoidal Obstruction Syndrome After Adjuvant Chemotherapy for Solid Organ Malignancy.2025 · Pediatric blood & cancer

• 妊娠後期の脳発達に影響する「早産児における減少因子」の探索2025 · 科学研究費助成事業
• 糖脂質蓄積疾患に対する新・評価系を使った薬剤開発2025 · 日本医療研究開発機構研究費
• 遺伝子改変マウスを用いたグルタル酸尿症の病態解析2023 · 科学研究費助成事業
• DNM1-L遺伝子変異による心筋症発症病態の解明と新規治療法への応用2022 · 科学研究費助成事業

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