The 66th Annual Meeting of the Japanese Society of Child Neurology

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General Oral Presentation

[O13] 代謝・神経変性疾患 1

Thu. May 30, 2024 1:10 PM - 2:10 PM Room9 (Bldg.1 3F 133＋134)

Organizer:Takashi Hamazaki(Department of Pediatrics, Graduate School of Medicine Osaka Metropolitan University),Kazuo Kubota(Department of Pediatrics, Gifu University Graduate School of Medicine)

[O13-5] A boy with NGLY1-associated congenital disorder of deglycosylation showing progressive myoclonus epilepsy

○Yuri Sonoda1, Pin Fee Chong1, Kenta Kajiwara1, Atsushi Fujita2, Yasunari Sakai1, Naomichi Matsumoto2, Shouichi Ohga1 (1.Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan)

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