Kyoto University · Faculty of Medicine / Graduate School of Medicine · 助教

Research keywordspediatric neurology・neurogenetics・epileptic encephalopathy・congenital myopathy・lysosomal disorders・Pompe disease・rare disease diagnosis・iPSC disease models

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• 当院で造血幹細胞移植を行った,大脳型副腎白質ジストロフィー8例の長期予後日本小児科学会雑誌,
• A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8Human Genome Variation,
• Enzyme replacement therapy provides effective, long-term treatment of cardiomyopathy in pompe diseaseCirculation Journal,
• Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.Journal of human genetics,

• 小児脳MRIにおけるMR Fingerprintingの応用
• 乾燥ろ紙血プロテオーム解析によるMenkes病新生児スクリーニング法の開発
• 遺伝性銅代謝異常症の新規原因遺伝子の解明
• 発達性てんかん性脳症における皮質アストロサイトの未熟性を遺伝子レベルで解析する

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