Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome

Journal of Inherited Metabolic Disease

Volumn 23, Issue 5, 2000, Pages 464-474

  Honda, M ^a,b   Tint, G S ^b,c   Honda, A ^a,b   Salen, G ^b,c   Shefer, S ^b   Batta, A K ^b   Matsuzaki, Y ^a   Tanaka, N ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; 7 DEHYDROCHOLESTEROL; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; MEVALONIC ACID; MICROSOME ENZYME; SQUALENE SYNTHASE; STEROL;

ARTICLE; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME REGULATION; FEMALE; HUMAN; IN VIVO STUDY; INFANT; LIVER MICROSOME; MALE; RECESSIVE INHERITANCE; SMITH LEMLI OPITZ SYNDROME; STEROL ANALYSIS;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; FARNESYL-DIPHOSPHATE FARNESYLTRANSFERASE; FEMALE; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; HYDROXYMETHYLGLUTARYL-COA SYNTHASE; INFANT; MALE; MICROSOMES, LIVER; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0033931248     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005660130109     Document Type: Article

References (38)

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