Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
Resource Type
Article
Authors
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