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Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Yamada, Kazuki; Yaguchi, Hiroaki; Abe, Megumi; Ishikawa, Kaede; Tanaka, Daiki; Oshima, Yuki; Kudo, Akihiko; Uwatoko, Hisashi; Shirai, Shinichi; Takahashi-Iwata, Ikuko; Matsushima, Masaaki; Nishino, Ichizo; Yabe, Ichiro.
Afiliação
  • Yamada K; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Yaguchi H; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address: yaguchi-h@pop.med.hokudai.ac.jp.
  • Abe M; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Ishikawa K; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Tanaka D; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Oshima Y; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Kudo A; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Uwatoko H; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Shirai S; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Takahashi-Iwata I; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Matsushima M; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.
  • Yabe I; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address: yabe@med.hokudai.ac.jp.
Clin Neurol Neurosurg ; 228: 107670, 2023 05.
Article em En | MEDLINE | ID: mdl-36996668

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article