No abstract available
MeSH terms
-
17-alpha-Hydroxyprogesterone / analysis
-
Adrenal Glands / metabolism*
-
Adrenal Glands / physiopathology
-
Adrenal Hyperplasia, Congenital / diagnosis*
-
Adrenal Hyperplasia, Congenital / genetics
-
Adrenal Hyperplasia, Congenital / metabolism
-
Biomarkers / analysis
-
Blotting, Southern
-
Cholesterol / metabolism
-
Exons
-
Genes, Recessive
-
Humans
-
Hydrocortisone / analysis*
-
Hydrocortisone / biosynthesis
-
Infant, Newborn
-
Introns
-
Isoenzymes / genetics
-
Isoenzymes / metabolism
-
Multiplex Polymerase Chain Reaction / methods*
-
Mutation
-
Neonatal Screening
-
Severity of Illness Index
-
Steroid 21-Hydroxylase / genetics
-
Steroid 21-Hydroxylase / metabolism*
Substances
-
Biomarkers
-
Isoenzymes
-
17-alpha-Hydroxyprogesterone
-
Cholesterol
-
CYP21A2 protein, human
-
Steroid 21-Hydroxylase
-
Hydrocortisone