Congenital adrenal hyperplasia.
Department of Molecular Medicine and Surgery, Karolinska Institutet, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Sweden. Electronic address: Anna.Wedell@ki.se.
Anna
A
Wedell
D019326:17-alpha-Hydroxyprogesterone / Q000032:analysis; D000311:Adrenal Glands / Q000378:metabolism* / Q000503:physiopathology; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D015415:Biomarkers / Q000032:analysis; D015139:Blotting, Southern; D002784:Cholesterol / Q000378:metabolism; D005091:Exons; D005808:Genes, Recessive; D006801:Humans; D006854:Hydrocortisone / Q000032:analysis* / Q000096:biosynthesis; D007231:Infant, Newborn; D007438:Introns; D007527:Isoenzymes / Q000235:genetics / Q000378:metabolism; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D009154:Mutation; D015997:Neonatal Screening; D012720:Severity of Illness Index; D013255:Steroid 21-Hydroxylase / Q000235:genetics / Q000378:metabolism*
D015415:Biomarkers; D007527:Isoenzymes; D019326:17-alpha-Hydroxyprogesterone; D002784:Cholesterol; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase; D006854:Hydrocortisone