Detection of defective 3β-hydroxysterol Δ7-reductase activity in cultured human fibroblasts: A method for the diagnosis of Smith-Lemli-Opitz syndrome

Journal of Inherited Metabolic Disease

Volumn 19, Issue 1, 1996, Pages 59-64

  Lund, E ^a   Starck, L ^b   Venkelos, N ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b SACHS CHILDREN S HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXYSTEROL DELTA 7 REDUCTASE; 7 DEHYDROCHOLESTEROL; CHOLESTEROL; CHOLESTEROL DERIVATIVE; LATHOSTEROL; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME DEFECT; FIBROBLAST CULTURE; GAS CHROMATOGRAPHY; HUMAN; HUMAN CELL; MASS SPECTROMETRY; SMITH LEMLI OPITZ SYNDROME;

CELLS, CULTURED; CHOLESTEROL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CULTURE MEDIA; FIBROBLASTS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PRENATAL DIAGNOSIS; SKIN; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0029670239     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799349     Document Type: Article

References (9)

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