Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM

Hormone Research in Paediatrics

Volumn 48, Issue 6, 1997, Pages 243-251

  Malnowicz E M ^a   Mitkowska, Z ^b   Bal, K ^c   Nizankowska Blaz T ^d   Moszczynska E ^a   Iwanicka, Z ^e   Romer, T E ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^c INSTITUTE OF SPORT   (Poland)

^d Voivodship Hospital No 2   (Poland)

^e MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

Congenital adrenal hyperplasia; GC MS SIM; Infants; Newborns; Urinary marker analysis

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CORTODOXONE; HYDROXYPROGESTERONE; STEROID; STEROID 21 MONOOXYGENASE; STEROID 5ALPHA REDUCTASE;

ADRENAL HEMORRHAGE; ADRENAL INSUFFICIENCY; ARTICLE; CLINICAL TRIAL; CONGENITAL ADRENAL HYPERPLASIA; DIAGNOSTIC ERROR; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; NEWBORN; PRIORITY JOURNAL; SODIUM DEPLETION; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROID BLOOD LEVEL; STEROID METABOLISM; STEROIDOGENESIS; URINALYSIS;

ADRENAL CORTEX HORMONES; ADRENAL GLAND DISEASES; BIOLOGICAL MARKERS; ENZYMES; FALSE POSITIVE REACTIONS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; STEROIDS;

EID: 1842405342     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000185529     Document Type: Article

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