Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening

Clinical Genetics

Volumn 82, Issue 1, 2012, Pages 64-70

  Sarafoglou, K ^a   Lorentz, C P ^a   Otten, N ^a   Oetting, W S ^b   Grebe, S K G ^c  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c MAYO CLINIC   (United States)

Author keywords

17 hydroxyprogesterone; Congenital adrenal hyperplasia; Glucocorticoid therapy; Molecular testing; Newborn screening

Indexed keywords

CORTICOTROPIN; DEXAMETHASONE; FLUDROCORTISONE; GLUCOCORTICOID; HYDROCORTISONE; HYDROXYPROGESTERONE; MINERALOCORTICOID; PREDNISOLONE; STEROID 21 MONOOXYGENASE;

ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FOLLOW UP; GENOTYPE PHENOTYPE CORRELATION; GESTAGEN BLOOD LEVEL; HUMAN; MOLECULAR DIAGNOSIS; NEWBORN SCREENING; PRIORITY JOURNAL; STIMULATION;

17-ALPHA-HYDROXYPROGESTERONE; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; FEMALE; FLUDROCORTISONE; GENETIC ASSOCIATION STUDIES; GLUCOCORTICOIDS; HUMANS; HYDROCORTISONE; INFANT; INFANT, NEWBORN; MALE; MINERALOCORTICOIDS; MUTATION; NEONATAL SCREENING; STEROID 21-HYDROXYLASE;

EID: 84862248194     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01694.x     Document Type: Article

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