Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

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 accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on new...

Descripción completa

Detalles Bibliográficos
Autores principales: Kopacek, Cristiane, de Castro, Simone Martins, Prado, Mayara Jorgens, da Silva, Claudia Maria Dornelles, Beltrão, Luciana Amorim, Spritzer, Poli Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240440/
https://www.ncbi.nlm.nih.gov/pubmed/28095810
http://dx.doi.org/10.1186/s12887-016-0772-x

Ejemplares similares

Ejemplares similares