Neonatal screening: Identification of children with 11β-hydroxylase deficiency by second-tier testing

Hormone Research in Paediatrics

Volumn 77, Issue 3, 2012, Pages 195-199

  Janzen, Nils ^a,c,i   Riepe, Felix G ^b   Peter, Michael ^c   Sander, Stefanie ^c   Steuerwald, Ulrike ^c   Korsch, Eckhard ^d   Krull, Friedrich ^e   Müller, Hermann L ^f   Heger, Sabine ^g   Brack, Christoph ^h   Sander, Johannes ^c  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c Screening Laboratory Hannover   (Germany)

^d KLINIKEN DER STADT KÖLN GGMBH   (Germany)

^e Clinic for Paediatric Diseases   (Germany)

^f KLINIKUM OLDENBURG   (Germany)

^g KINDERKRANKENHAUS AUF DER BULT   (Germany)

^h Paediatric Practice   (Germany)

ⁱ MVZ Dr Eberhard and Partner Dortmund   (Germany)

Author keywords

11 Hydroxylase deficiency; Congenital adrenal hyperplasia; Newborn screening; Steroid profiling

Indexed keywords

21 DEOXYHYDROCORTISONE; ANDROSTENEDIONE; CORTODOXONE; HORMONE; HYDROCORTISONE; HYDROXYPROGESTERONE; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; FEMALE; HUMAN; IMMUNOASSAY; LIQUID CHROMATOGRAPHY; MALE; NEWBORN; NEWBORN SCREENING; PATIENT IDENTIFICATION; PRIORITY JOURNAL; SECOND TIER TESTING; STEROID 11BETA MONOOXYGENASE DEFICIENCY; TANDEM MASS SPECTROMETRY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; ANDROSTENEDIONE; CORTODOXONE; FALSE POSITIVE REACTIONS; FEMALE; HUMANS; HYDROCORTISONE; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; STEROID 11-BETA-HYDROXYLASE;

EID: 84859730884     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000337974     Document Type: Article

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