Anna Wedell1. Show Affiliations » 1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Sweden. Electronic address: Anna.Wedell@ki.se.
Abstract
Entities: Disease
Mesh： See more » 17-alpha-Hydroxyprogesterone/analysisAdrenal Glands/metabolismAdrenal Glands/physiopathologyAdrenal Hyperplasia, Congenital/diagnosisAdrenal Hyperplasia, Congenital/geneticsAdrenal Hyperplasia, Congenital/metabolismBiomarkers/analysisBlotting, SouthernCholesterol/metabolismExonsGenes, RecessiveHumansHydrocortisone/analysisHydrocortisone/biosynthesisInfant, NewbornIntronsIsoenzymes/geneticsIsoenzymes/metabolismMultiplex Polymerase Chain Reaction/methodsMutationNeonatal ScreeningSeverity of Illness IndexSteroid 21-Hydroxylase/geneticsSteroid 21-Hydroxylase/metabolism
Substances： See more » BiomarkersIsoenzymes17-alpha-HydroxyprogesteroneCholesterolCYP21A2 protein, humanSteroid 21-HydroxylaseHydrocortisone
Year: 2011 PMID： 22036349 DOI： 10.1016/j.clinbiochem.2011.02.026
Source DB: PubMed Journal: Clin Biochem ISSN： 0009-9120 Impact factor: 3.281