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A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
Miyamoto, Sachiko; Nakashima, Mitsuko; Ohashi, Tsukasa; Hiraide, Takuya; Kurosawa, Kenji; Yamamoto, Toshiyuki; Takanashi, Junichi; Osaka, Hitoshi; Inoue, Ken; Miyazaki, Takehiro; Wada, Yoshinao; Okamoto, Nobuhiko; Saitsu, Hirotomo.
Afiliação
  • Miyamoto S; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Ohashi T; Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan.
  • Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Yamamoto T; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
  • Takanashi J; Department of Pediatrics and Pediatric Neurology, Tokyo Women's Medical University, Yachiyo Medical Center, Yachiyo, Japan.
  • Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Inoue K; Department of Mental Retardation & Birth Defect Research, National Institute of Neuroscience, National Center of Neurology & Psychiatry, Japan.
  • Miyazaki T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Wada Y; 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.
  • Saitsu H; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Mol Genet Genomic Med ; 7(8): e814, 2019 08.
Article em En | MEDLINE | ID: mdl-31231989
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia / Proteínas de Transporte de Monossacarídeos / Deficiências do Desenvolvimento / Defeitos Congênitos da Glicosilação / Bainha de Mielina Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia / Proteínas de Transporte de Monossacarídeos / Deficiências do Desenvolvimento / Defeitos Congênitos da Glicosilação / Bainha de Mielina Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article