Molecular genetics of maple syrup urine disease in Brazilian patients (2015)
- Authors:
- USP affiliated authors: CAMELO JUNIOR, JOSE SIMON - FMRP ; SILVA JUNIOR, WILSON ARAÚJO DA - FMRP
- Unidade: FMRP
- Subjects: ERROS INATOS DO METABOLISMO; AMINOÁCIDOS; MUTAÇÃO
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Inherited Metabolic Disease
- ISSN: 0141-8955
- Volume/Número/Paginação/Ano: v. 38, suppl. 1, p. S162-S163, res. P-259, 2015
- Conference titles: Annual Symposium of Society for the Study of Inborn Errors of Metabolism (SSIEM)
-
ABNT
CAMELO JÚNIOR, José Simon et al. Molecular genetics of maple syrup urine disease in Brazilian patients. Journal of Inherited Metabolic Disease. Dordrecht: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 21 fev. 2026. , 2015 -
APA
Camelo Júnior, J. S., Margutti, A. V. B., Schwartz, I. V. D., & Silva Júnior, W. A. da. (2015). Molecular genetics of maple syrup urine disease in Brazilian patients. Journal of Inherited Metabolic Disease. Dordrecht: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. -
NLM
Camelo Júnior JS, Margutti AVB, Schwartz IVD, Silva Júnior WA da. Molecular genetics of maple syrup urine disease in Brazilian patients. Journal of Inherited Metabolic Disease. 2015 ; 38 S162-S163.[citado 2026 fev. 21 ] -
Vancouver
Camelo Júnior JS, Margutti AVB, Schwartz IVD, Silva Júnior WA da. Molecular genetics of maple syrup urine disease in Brazilian patients. Journal of Inherited Metabolic Disease. 2015 ; 38 S162-S163.[citado 2026 fev. 21 ] - Perfil genotípico de pacientes brasileiros com doença da urina do xarope do bordo
- Clinical and molecular characterization of classical galactosemia in Brazil with identification of six novel mutations
- Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
- Perfil genotípico de pacientes brasileiros com galactosemia clássica e estudo da relação do genótipo com o fenótipo
- Genotypic profile of Brazilian patients with classic galactosemia and study of the genotype-phenotype correlation
- Long-term effect of imiglucerase in Latin American children with Gaucher disease type 1: lessons from the International Collaborative Gaucher Group Gaucher Registry
- Análises de desfechos em condutas baseadas no ILCOR 2005 e 2010 frente ao recém-nascido com líquido amniótico meconial
- The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients
- Early onset of lysosomal acid lipase deficiency-wolman disease: a case report
- Estudo de niveis plasmaticos de aminoacidos em parturientes, espaco interviloso da placenta e veia umbilical de recem-nascidos a termo e pre-termo
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
