Identification of six new mutations on chilean population with maple syrup urine disease (2017)
- Authors:
- Autor USP: CAMELO JUNIOR, JOSE SIMON - FMRP
- Unidade: FMRP
- Subjects: GENÉTICA ANIMAL; GADO NELORE; INTERAÇÃO GENÓTIPO-AMBIENTE
- Language: Inglês
- Imprenta:
- Publisher place: Thousand Oaks
- Date published: 2017
- Source:
- Título: Journal of Inborn Errors of Metabolism and Screening
- ISSN: 2326-4594
- Volume/Número/Paginação/Ano: v. 5, special suppl., p. 174-175, res. 386, 2017
- Conference titles: International Congress of Inborn Errors of Metabolism
-
ABNT
CAMPANHOLI, Diana et al. Identification of six new mutations on chilean population with maple syrup urine disease. Journal of Inborn Errors of Metabolism and Screening. Thousand Oaks: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 13 fev. 2026. , 2017 -
APA
Campanholi, D., Camelo Júnior, J. S., Cornejo, V., Schwartz, I. V. D., Borges, E., Silva Júnior, W. A. da, & Campo, K. (2017). Identification of six new mutations on chilean population with maple syrup urine disease. Journal of Inborn Errors of Metabolism and Screening. Thousand Oaks: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. -
NLM
Campanholi D, Camelo Júnior JS, Cornejo V, Schwartz IVD, Borges E, Silva Júnior WA da, Campo K. Identification of six new mutations on chilean population with maple syrup urine disease. Journal of Inborn Errors of Metabolism and Screening. 2017 ; 5 174-175.[citado 2026 fev. 13 ] -
Vancouver
Campanholi D, Camelo Júnior JS, Cornejo V, Schwartz IVD, Borges E, Silva Júnior WA da, Campo K. Identification of six new mutations on chilean population with maple syrup urine disease. Journal of Inborn Errors of Metabolism and Screening. 2017 ; 5 174-175.[citado 2026 fev. 13 ] - 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
- Análise de composição corporal em recém-nascidos a termo e sua relação com a composição corporal materna
- Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
- The role of angiotensin II receptor-1 blockade in the hypoxic pulmonary vasoconstriction response in newborn piglets
- Neonatal near miss: a systematic review
- Recém-nascidos de muito baixo peso e estado nutricional: certezas e incertezas
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas