Classic Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency – the Next Disease Included in The Neonatal Screening Program in Poland

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. The most common form of CAH is caused by mutations in CYP21A, the gene encoding the adrenal steroid 21-hydroxylase enzyme. Deficiency of the enzyme leads to life-threatening...

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Detalles Bibliográficos
Autor principal: Ginalska-Malinowska, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2018
Materias:
Review Articles/Prace Poglądowe
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522895/
https://www.ncbi.nlm.nih.gov/pubmed/30056407
http://dx.doi.org/10.34763/devperiodmed.20182202.197200

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522895/
https://www.ncbi.nlm.nih.gov/pubmed/30056407
http://dx.doi.org/10.34763/devperiodmed.20182202.197200

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