Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations (2009)
- Authors:
- Oba-Shinjo, Sueli M.
- Basso-Silva, Roseli
- Andrade, Fernanda G.
- Palmer, Rachel E.
- Pomponio, Robert J.
- Ciociola, Kristina M.
- Carvalho, Mary S.
- Gutierrez, Paulo S.
- Porta, Gilda
- Marrone, Carlo D.
- Munoz, Verônica
- Grzesiuk, Anderson K.
- Llerena Júnior, Juan C.
- Berditchevsky, Célia R.
- Sobreira, Cláudia Ferreira da Rosa
- Horovitz, Dafne
- Hatem, Thamine P.
- Frota, Elizabeth Regina Comini
- Pecchini, Rogerio
- Kouyoumdjian, João Aris
- Werneck, Lineu
- Amado, Verônica M.
- Camelo Júnior, José Simon
- Mattaliano, Robert
- Marie, Suely Kazue Nagahashi
- 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
- Unidades: FM; FEARP; FMRP
- DOI: 10.1007/s00415-009-5219-y
- Subjects: MUTAÇÃO GENÉTICA; NEUROLOGIA
- Language: Inglês
- Imprenta:
- Publisher place: Heidelberg
- Date published: 2009
- Source:
- Título: Journal of Neurology
- ISSN: 0340-5354
- Volume/Número/Paginação/Ano: v. 256, n. 11, p. 1881-1890, 2009
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
OBA-SHINJO, Sueli M. et al. Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations. Journal of Neurology, v. 256, n. 11, p. 1881-1890, 2009Tradução . . Disponível em: https://doi.org/10.1007/s00415-009-5219-y. Acesso em: 27 nov. 2025. -
APA
Oba-Shinjo, S. M., Basso-Silva, R., Andrade, F. G., Palmer, R. E., Pomponio, R. J., Ciociola, K. M., 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, Basso-Silva R, 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, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo Júnior JS, Mattaliano R, Marie SKN. Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations [Internet]. Journal of Neurology. 2009 ; 256( 11): 1881-1890.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1007/s00415-009-5219-y -
Vancouver
Oba-Shinjo SM, Basso-Silva R, 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, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo Júnior JS, Mattaliano R, Marie SKN. Pompe disease in a Brazilian series:: clinical and molecular analyses with identification of nine new mutations [Internet]. Journal of Neurology. 2009 ; 256( 11): 1881-1890.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1007/s00415-009-5219-y - Comparação do genótipo das famílias com doença de Pompe
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Informações sobre o DOI: 10.1007/s00415-009-5219-y (Fonte: oaDOI API)
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