聖マリアンナ医科大学 · 医学部 · 講師

研究关键词mitochondrial diseases・inherited metabolic disorders・hypophosphatasia・biotin-responsive basal ganglia disease・enzyme enhancement therapy・prenatal diagnosis

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• ミトコンドリア性リボソームタンパク質PTCD3の変異はリー症候群の新規の原因である(Mitochondrial ribosomal protein PTCD3 mutations are novel cause of Leigh syndrome)
• A Japanese patient with neonatal biotin-responsive basal ganglia disease.
• Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
• Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

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