Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients (2019)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1177/2326409818788900
- Subjects: HOMOCISTEÍNA; AMINOÁCIDOS; VITAMINA B6; BRASIL
- Language: Inglês
- Imprenta:
- Publisher place: California
- Date published: 2019
- Source:
- Título: Journal of inborn errors of metabolism and screening
- ISSN: 2326-4594
- Volume/Número/Paginação/Ano: v. 6, n. 0, p. e180007, 2019
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
POLONI, Soraia et al. Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients. Journal of inborn errors of metabolism and screening, v. 6, n. 0, p. e180007, 2019Tradução . . Disponível em: https://doi.org/10.1177/2326409818788900. Acesso em: 12 abr. 2026. -
APA
Poloni, S., Hoss, G. W., Sperb-ludwig, F., Borsatto, T., Doriqui, M. J. R., Leão, E. K. E. A., et al. (2019). Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients. Journal of inborn errors of metabolism and screening, 6( 0), e180007. doi:10.1177/2326409818788900 -
NLM
Poloni S, Hoss GW, Sperb-ludwig F, Borsatto T, Doriqui MJR, Leão EKEA, Boa-sorte N, Lourenço CM, Kim CA, Souza CFM de. Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients [Internet]. Journal of inborn errors of metabolism and screening. 2019 ; 6( 0): e180007.[citado 2026 abr. 12 ] Available from: https://doi.org/10.1177/2326409818788900 -
Vancouver
Poloni S, Hoss GW, Sperb-ludwig F, Borsatto T, Doriqui MJR, Leão EKEA, Boa-sorte N, Lourenço CM, Kim CA, Souza CFM de. Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients [Internet]. Journal of inborn errors of metabolism and screening. 2019 ; 6( 0): e180007.[citado 2026 abr. 12 ] Available from: https://doi.org/10.1177/2326409818788900 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
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