A case of 11β-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS

Hormone Research

Volumn 69, Issue 4, 2008, Pages 253-256

  Peter, M ^a   Janzen, N ^a   Sander, S ^a   Korsch, E ^b   Riepe, F G ^c   Sander, J ^a  

^a Screening Labor Hannover   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

Congenital adrenal hyperplasia; CYP11B1; Newborn screening; Tandem mass spectrometry

Indexed keywords

ANDROSTENEDIONE; CORTODOXONE; CYTOCHROME P450 11B1; CYTOCHROME P450 ISOENZYME; HYDROXYPROGESTERONE; STEROID 11BETA MONOOXYGENASE; UNCLASSIFIED DRUG;

ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; BLOOD SAMPLING; CASE REPORT; ENZYME DEFICIENCY; FAMILY HISTORY; GENETIC ANALYSIS; GENITAL MALFORMATION; HORMONE DETERMINATION; HUMAN; HYDROCORTISONE BLOOD LEVEL; IMMUNOFLUORESCENCE TEST; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; POINT MUTATION; PRIORITY JOURNAL; SIBLING; STEROID 11 BETA MONOOXYGENASE DEFICIENCY; CONGENITAL ADRENAL HYPERPLASIA; GENETICS; INFANT; METABOLISM; METHODOLOGY; MUTATION; TANDEM MASS SPECTROMETRY;

ADRENAL HYPERPLASIA, CONGENITAL; CHROMATOGRAPHY, LIQUID; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; STEROID 11-BETA-HYDROXYLASE; TANDEM MASS SPECTROMETRY;

EID: 42449099592     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000113027     Document Type: Article

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