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Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
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.
Afiliação
  • Sonoda Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Research Center for Environment and Developmental Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Torio M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Mukaino T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sakata A; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
  • Matsukura M; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan.
  • Yonemoto K; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan.
  • Hatae K; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan.
  • Ichimiya Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Chong PF; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Ochiai M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Research Center for Environment and Developmental Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Wada Y; Department of Obstetric Medicine, Osaka Women's and Children's Hospital, Osaka, Japan; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Kadoya M; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Okamoto N; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Murakami Y; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Osaka, Japan.
  • Suzuki T; Glycometabolic Biochemistry Laboratory, RIKEN Cluster for Pioneering Research, Saitama, Japan; Takeda-CiRA Joint Program (T-CiRA), Kanagawa, Japan.
  • Isobe N; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Shigeto H; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Division of Medical Technology, Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: sakai.yasunari.530@m.kyushu-u.ac.jp.
  • Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Eur J Med Genet ; 67: 104895, 2024 Feb.
Article em En | MEDLINE | ID: mdl-38070824
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Defeitos Congênitos da Glicosilação / Epilepsias Mioclônicas Progressivas / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Defeitos Congênitos da Glicosilação / Epilepsias Mioclônicas Progressivas / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Japão