Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency

Steroids

Volumn 64, Issue 7, 1999, Pages 481-490

  Shackleton, Cedric H L ^a   Roitman, Esther ^a   Kelley, Richard ^b  

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

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

7 Dehydrocholesterol; 7 Dehydrocholesterol reductase; Gas chromatography mass spectrometry; Neonatal steroids; Pregnadienes; Smith Lemli Opitz syndrome

Indexed keywords

3BETA,16ALPHA DIHYDROXY 5,7 PREGNADIEN 20 ONE; 3BETA,16ALPHA DIHYDROXY 5,8(9) PREGNADIEN 20 ONE; 7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL; PREGNANE DERIVATIVE; UNCLASSIFIED DRUG;

CASE REPORT; CHOLESTEROL SYNTHESIS; CONFERENCE PAPER; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HUMAN; MASS SPECTROMETRY; NEWBORN; SMITH LEMLI OPITZ SYNDROME; STEROID URINE LEVEL;

GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT, NEWBORN; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNADIENES; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0032792849     PISSN: 0039128X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0039-128X(99)00022-7     Document Type: Conference Paper

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