Aconitase 2 deficiency with cerebellar atrophy diagnosed by whole exome sequencing and enzyme assay

山田桂太郎 (Keitaro Yamada)

Presentation information

Oral Presentation

Metabolic desease

[O11] Metabolic desease

Fri. May 31, 2019 10:10 AM - 11:10 AM Room 8 (Conference Room 131+132, 3F, Bldg. 1)

Chair: kazuo Kubota (Department of Pediatrics, Gifu University Graduate School of Medicine), Tetsuya Ito (Department of Pediatrics, Fujita Health University School of Medicine)

[O-065] Aconitase 2 deficiency with cerebellar atrophy diagnosed by whole exome sequencing and enzyme assay

山田桂太郎 (Keitaro Yamada)¹, 深田斉秀², 才津浩智³, 隈井すみれ¹, 細川洋輔¹, 小川千香子¹, 倉橋直子¹, 松本直通⁴, 中山敦雄², 丸山幸一¹ (1.愛知県医療療育総合センター中央病院小児神経科, 2.愛知県医療療育総合センター発達障害研究所発生障害学, 3.浜松医科大学医化学, 4.横浜市立大学遺伝学)

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