Prevalência da deficiência de G6PD e caracterização molecular dos polimorfismos G202A, A376G e C563T em neonatos no Sudeste do Brasil

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Pereira, Lucas Luís Meigre Dias; Bravin, Cristina Augusta; Cintra, Terezinha Sarquis; Cassa, Wélida Santos Portela; Santos, Thainá Altoé; Fonseca, Armando; Pratte-Santos, Rodrigo;
(2019)
  • Publisher: Instituto Israelita de Ensino e Pesquisa Albert Einstein
  • Subject: Glucosephosphate dehydrogenase deficiency | Deficiência de glucosefosfato desidrogenase | Polymorphism, genetic | Infant, newborn | Polimorfismo genético | Recém-nascido

ABSTRACT 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, detecting 2... View more
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