A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 (2010)
- Authors:
- USP affiliated authors: GIANNELLA, MARIA LUCIA CARDILLO CORREA - FM ; FORTES, MARIA ANGELA HENRIQUES ZANELLA - FM ; CAVALEIRO, ANA MERCEDES DE SOUSA - FM
- Unidade: FM
- DOI: 10.1186/1471-2350-11-3
- Subjects: GLICOGENOSE; MUTAÇÃO GENÉTICA (ENZIMOLOGIA); CRIANÇAS
- Language: Inglês
- Imprenta:
- Source:
- Título: BMC Medical Genetics
- ISSN: 1471-2350
- Volume/Número/Paginação/Ano: v. 11, n. 3, p. 1-5, 2010
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
SOGGIA, Ana Priscila et al. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. BMC Medical Genetics, v. 11, n. 3, p. 1-5, 2010Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-11-3. Acesso em: 31 mar. 2026. -
APA
Soggia, A. P., Correa-Giannella, M. L., Fortes, M. A. H., Luna, A. M. C., & Pereira, M. A. A. (2010). A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. BMC Medical Genetics, 11( 3), 1-5. doi:10.1186/1471-2350-11-3 -
NLM
Soggia AP, Correa-Giannella ML, Fortes MAH, Luna AMC, Pereira MAA. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 [Internet]. BMC Medical Genetics. 2010 ; 11( 3): 1-5.[citado 2026 mar. 31 ] Available from: https://doi.org/10.1186/1471-2350-11-3 -
Vancouver
Soggia AP, Correa-Giannella ML, Fortes MAH, Luna AMC, Pereira MAA. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 [Internet]. BMC Medical Genetics. 2010 ; 11( 3): 1-5.[citado 2026 mar. 31 ] Available from: https://doi.org/10.1186/1471-2350-11-3 - Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene
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