Midgestational maternal urine steroid markers of fetal Smith-Lemli- Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)

Steroids

Volumn 64, Issue 7, 1999, Pages 446-452

  Shackleton, Cedric H L ^a   Roitman, Esther ^a   Kratz, Lisa E ^b   Kelley, Richard I ^b  

^a CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

7 8 Pregnenetriols; Gas chromatography mass spectrometry; Pregnancy urine steroids; Smith Lemli Opitz syndrome

Indexed keywords

5BETA PREGN 7 ENE 3ALPHA, 17ALPHA,20ALPHA TRIOL; 5BETA PREGN 8 ENE 3ALPHA, 17ALPHA,20ALPHA TRIOL; 7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL 7 REDUCTASE; UNCLASSIFIED DRUG;

ADULT; AMNION FLUID ANALYSIS; CASE REPORT; CHOLESTEROL SYNTHESIS; CHORION VILLUS SAMPLING; CONFERENCE PAPER; CONGENITAL MALFORMATION; DISEASE MARKER; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; HUMAN; MASS SPECTROMETRY; SECOND TRIMESTER PREGNANCY; SMITH LEMLI OPITZ SYNDROME; STEROID URINE LEVEL;

ADULT; BIOLOGICAL MARKERS; CHROMATOGRAPHY, ION EXCHANGE; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PREGNENES; PRENATAL DIAGNOSIS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0032801752     PISSN: 0039128X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0039-128X(99)00026-4     Document Type: Conference Paper

References (13)

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