Cargando…

Neonatal mass screening for 21-hydroxylase deficiency

Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (S...

Descripción completa

Detalles Bibliográficos
Autores principales: Tajima, Toshihiro, Fukushi, Masaru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738187/
https://www.ncbi.nlm.nih.gov/pubmed/26865749
http://dx.doi.org/10.1297/cpe.25.1