Browsing Biological Sciences by Author "Prado, Mayara Jorgens"
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Characterization of mutations causing CYP21A2 deficiency in brazilian and portuguese populations
Prado, Mayara Jorgens; Singh, Shripriya; Braun, Rodrigo Ligabue; Meneghetti, Bruna Valandro; Serrano, Thaiane Rispoli; Kopacek, Cristiane; Monteiro, Karina Mariante; Zaha, Arnaldo; Rossetti, Maria Lucia Rosa; Pandey, Amit V. (2022) [Journal article]Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction and functional ... -
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation
Kopacek, Cristiane; Prado, Mayara Jorgens; Silva, Cláudia Maria Dornelles da; Castro, Simone Martins de; Beltrão, Luciana Amorim; Vargas, Paula Regla; Grandi, Tarciana; Rossetti, Maria Lucia Rosa; Spritzer, Poli Mara (2019) [Journal article]Objective To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods ... -
Neonatal screening for congenital adrenal hyperplasia in Southern Brazil : a population based study with 108,409 infants
Kopacek, Cristiane; Castro, Simone Martins de; Prado, Mayara Jorgens; Silva, Cláudia Maria Dornelles da; Beltrão, Luciana Amorim; Spritzer, Poli Mara (2017) [Journal article]Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with ...