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Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations (2009)

  • Authors:
  • USP affiliated authors: SHINJO, SUELI MIEKO OBA - FM ; SILVA, ROSELI DA - FEARP ; SOBREIRA, CLAUDIA FERREIRA DA ROSA - FMRP ; CAMELO JUNIOR, JOSE SIMON - FMRP ; MARIE, SUELY KAZUE NAGAHASHI - FM
  • USP Schools: FM; FEARP; FMRP; FMRP; FM
  • DOI: 10.1007/s00415-009-5219-y
  • Subjects: MUTAÇÃO GENÉTICA; NEUROLOGIA
  • Language: Inglês
  • Imprenta:
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    Informações sobre o DOI: 10.1007/s00415-009-5219-y (Fonte: oaDOI API)
    • Este periódico é de assinatura
    • Este artigo NÃO é de acesso aberto
    • Cor do Acesso Aberto: closed
    Informações sobre o Citescore
  • Título: Journal of Neurology

    ISSN: 0340-5354

    Citescore - 2017: 3

    SJR - 2017: 1.626

    SNIP - 2017: 1.314


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    • ABNT

      OBA-SHINJO, Sueli M.; KOUYOUMDJIAN, João Aris; WERNECK, Lineu; et al. Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations. Journal of Neurology, Heidelberg, v. 256, n. 11, p. 1881-1890, 2009. DOI: 10.1007/s00415-009-5219-y.
    • APA

      Oba-Shinjo, S. M., Kouyoumdjian, J. A., Werneck, L., Amado, V. M., Camelo Júnior, J. S., Mattaliano, R., et al. (2009). Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations. Journal of Neurology, 256( 11), 1881-1890. doi:10.1007/s00415-009-5219-y
    • NLM

      Oba-Shinjo SM, Kouyoumdjian JA, Werneck L, Amado VM, Camelo Júnior JS, Mattaliano R, Marie SKN, Pecchini R, Silva R da, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, Carvalho MS, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena Júnior JC, Berditchevsky CR, Sobreira CF da R, Horovitz D, Hatem TP, Frota ERC. Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations. Journal of Neurology. 2009 ; 256( 11): 1881-1890.
    • Vancouver

      Oba-Shinjo SM, Kouyoumdjian JA, Werneck L, Amado VM, Camelo Júnior JS, Mattaliano R, Marie SKN, Pecchini R, Silva R da, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, Carvalho MS, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena Júnior JC, Berditchevsky CR, Sobreira CF da R, Horovitz D, Hatem TP, Frota ERC. Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations. Journal of Neurology. 2009 ; 256( 11): 1881-1890.

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