Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil

Autor: Pereira, Lucas Luís Meigre Dias, Bravin, Cristina Augusta, Cintra, Terezinha Sarquis, Cassa, Wélida Santos Portela, Santos, Thainá Altoé, Fonseca, Armando, Pratte-Santos, Rodrigo

Publikováno v: Einstein
einstein (São Paulo) v.17 n.1 2019
Einstein (São Paulo)
Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron:IIEPAE
Einstein (São Paulo), Vol 17, Iss 1

Objective To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. Methods A total of one thousand samples were tested through quantitative analysis of enzyme activity, de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83ffd76a4983628e736fc42da741a4d3
https://doi.org/10.31744/einstein_journal/2019ao4436

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Análise de anomalias cromossômicas por CGH-array em pacientes com dismorfias e deficiência intelectual com cariótipo normal.

Autor: Pratte-Santos, Rodrigo^1,2 rodrigopratte@hotmail.com, Heringer Ribeiro, Katyanne², Altoe Santos, Thainá², Sarquis Cintra, Terezinha³

Publikováno v: Einstein (16794508). jan-mar2016, Vol. 14 Issue 1, p30-34. 5p.