Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis

Molecular Genetics and Metabolism

Volumn 71, Issue 1-2, 2000, Pages 154-162

  Battaile, Kevin P ^a   Steiner, Robert D ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Cholesterol; Diagnosis; Genetic; Inborn errors of metabolism; Metabolism; Smith Lemli Opitz; Treatment

Indexed keywords

7 DEHYDROCHOLESTEROL; BILE ACID; CHENODEOXYCHOLIC ACID; CHOLESTEROL; CHOLESTEROL OXIDASE; URSODEOXYCHOLIC ACID;

CHOLESTEROL BLOOD LEVEL; CHOLESTEROL INTAKE; CHOLESTEROL SYNTHESIS; CLINICAL TRIAL; CONGENITAL MALFORMATION; DRUG EFFICACY; GAS CHROMATOGRAPHY; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY DIAGNOSIS; MALFORMATION SYNDROME; MASS SPECTROMETRY; MOLECULAR GENETICS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SHORT SURVEY; SMITH LEMLI OPITZ SYNDROME; STEROL SYNTHESIS; TISSUE DISTRIBUTION;

EID: 0033813628     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3020     Document Type: Article

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