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Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
(Churchill LivingstoneEdinburghEscócia, 2013)
Hiperplasia adrenal congénita por déficit de 21 hidroxilasa: un reto diagnóstico y terapéutico
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2016-06-01)
Generation of monoclonal antibodies against 17α-hydroxyprogesterone for newborn screening of congenital adrenal hyperplasia
(Elsevier B.V., 2018)
© 2018 Elsevier B.V. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by the deficiency of one of the five enzymes involved in the biosynthesis of corticosteroids. The most common form of the ...
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein
(ISSUED FOR THE ENDOCRINE SOCIETY BY THE WILLIAMS & WILKINS CO, 2004)
Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia
(WILEY-BLACKWELL PUBLISHING, INC, 2009)
Neonatal screening for congenital adrenal hyperplasia (CAH) is useful in diagnosing salt wasting form (SW). However, there are difficulties in interpreting positive results in asymptomatic newborns. The main objective is ...
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred - An estimate based on a public neonatal screening program in the state of Goias
(FREUND PUBLISHING HOUSE LTD, 2008)
The incidence of 21-hydroxylase deficiency (CYP21 D) congenital adrenal hyperplasia (CAH) in Brazil is purportedly one of the highest in the world (1:7,533). However, this information is not based on official data. The aim ...
Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: Detección de dos nuevas mutaciones en Chile
(2007)
Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The ...