Listar Ciencias de la Salud por autor "Prado, Mayara Jorgens"
Mostrando ítems 1-2 de 2
-
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) [Artículo de periódico]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) [Artículo de periódico]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 ...