Metabolic evidence for impaired 17α-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity

European Journal of Endocrinology

Volumn 158, Issue 3, 2008, Pages 385-392

  Tiosano, Dov ^a   Knopf, Carlos ^a   Koren, Ilana ^b   Levanon, Nurit ^a   Hartmann, Michaela F ^c   Hochberg, Ze'ev ^a   Wudy, Stefan A ^c  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b CLALIT HEALTH SERVICES   (Israel)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; CYTOCHROME P450 17; CYTOCHROME P450 17A1; HYDROCORTISONE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; TESTOSTERONE CIPIONATE; TESTOSTERONE ENANTATE; TETRACOSACTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; GYNECOMASTIA; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; HYPOSPADIAS; IN VIVO STUDY; MALE; MASS FRAGMENTOGRAPHY; METABOLOMICS; MICROPENIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; STEROID BLOOD LEVEL; STEROID URINE LEVEL; STEROIDOGENESIS; UROLOGIC SURGERY; WILD TYPE;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; BINDING SITES; CHILD; ENZYME ACTIVATION; FAMILY HEALTH; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENITALIA, MALE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; POINT MUTATION; STEROID 17-ALPHA-HYDROXYLASE; STEROIDS;

EID: 40949144759     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/EJE-07-0712     Document Type: Article

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