학술논문
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
Document Type
Article
Author
Sonoda, Yuri; Fujita, Atsushi; Torio, Michiko; Mukaino, Takahiko; Sakata, Ayumi; Matsukura, Masaru; Yonemoto, Kousuke; Hatae, Ken; Ichimiya, Yuko; Chong, Pin Fee; Ochiai, Masayuki; Wada, Yoshinao; Kadoya, Machiko; Okamoto, Nobuhiko; Murakami, Yoshiko; Suzuki, Tadashi; Isobe, Noriko; Shigeto, Hiroshi; Matsumoto, Naomichi; Sakai, Yasunari; Ohga, Shouichi
Source
In European Journal of Medical Genetics February 2024 67
Subject
Language
ISSN
1769-7212