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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...

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Pubblicato in:Clin Pediatr Endocrinol
Autori principali: Tajima, Toshihiro, Fukushi, Masaru
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Japanese Society for Pediatric Endocrinology 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4738187/
https://ncbi.nlm.nih.gov/pubmed/26865749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.25.1
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