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Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
Sugie, Kazuma; Yoshizawa, Hiroyuki; Onoue, Kenji; Nakanishi, Yoko; Eura, Nobuyuki; Ogawa, Megumu; Nakano, Tomoya; Sakaguchi, Yasuhiro; Hayashi, Yukiko K; Kishimoto, Toshifumi; Shima, Midori; Saito, Yoshihiko; Nishino, Ichizo; Ueno, Satoshi.
Afiliación
  • Sugie K; Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Yoshizawa H; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
  • Onoue K; Department of Pediatrics, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Nakanishi Y; First Department of Internal Medicine, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Eura N; Department of Psychiatry, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Ogawa M; Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Nakano T; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
  • Sakaguchi Y; First Department of Internal Medicine, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Hayashi YK; First Department of Internal Medicine, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Kishimoto T; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
  • Shima M; Department of Psychiatry, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Saito Y; Department of Pediatrics, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Nishino I; First Department of Internal Medicine, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
  • Ueno S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
Neuropathology ; 36(6): 561-565, 2016 Dec.
Article en En | MEDLINE | ID: mdl-27145725
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad por Depósito de Glucógeno de Tipo IIb / Proteína 2 de la Membrana Asociada a los Lisosomas / Discapacidad Intelectual / Mutación / Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Neuropathology Asunto de la revista: NEUROLOGIA / PATOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad por Depósito de Glucógeno de Tipo IIb / Proteína 2 de la Membrana Asociada a los Lisosomas / Discapacidad Intelectual / Mutación / Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Neuropathology Asunto de la revista: NEUROLOGIA / PATOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Japón