Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome

Molecular Genetics and Metabolism

Volumn 83, Issue 1-2, 2004, Pages 175-183

  Ginat, Sharon ^a   Battaile, Kevin P ^a   Battaile, Brian C ^b   Maslen, Cheryl ^c   Gibson, K Michael ^b   Steiner, Robert D ^a,b,d  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c UNIVERSITY OF ALASKA FAIRBANKS   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Cholesterol; DHCR7; Diagnosis; Enzyme assay; Metabolic disorder; Metabolism; Severity score; Smith Lemli Opitz

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; ERGOSTEROL; UNCLASSIFIED DRUG;

AMNION CELL; ARTICLE; ASSAY; CELL TRANSFORMATION; CELL TYPE; CHOLESTEROL BLOOD LEVEL; CHORION VILLUS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; MALE; MEASUREMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCORING SYSTEM; SMITH LEMLI OPITZ SYNDROME;

CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; ERGOSTEROL; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNANCY; REFERENCE VALUES; SMITH-LEMLI-OPITZ SYNDROME; STEROLS;

EID: 4744353289     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.07.002     Document Type: Article

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