Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

Journal of Lipid Research

Volumn 43, Issue 10, 2002, Pages 1661-1669

  Pappu, Anuradha S ^a   Steiner, Robert D ^b   Connor, Sonja L ^a   Flavell, Donna P ^a   Lin, Don S ^a   Hatcher, Lauren ^a   Roger Illingworth, D ^a   Connor, William E ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

24 h urine; 3 hydroxy 3 methylglutaryl coenzyme A reductase; 3 methyl glutaconic acid; 7 dehydrocholesterol; 8 dehydrocholesterol; Mevalonate shunt pathway; Sterols

Indexed keywords

3 METHYLGLUTACONIC ACID; 7 DEHYDROCHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; MEVALONIC ACID; STEROL;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL DIET; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CREATININE CLEARANCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENETIC DISORDER; HUMAN; MALE; NEGATIVE FEEDBACK; PRIORITY JOURNAL; PROTEIN FAMILY; SMITH LEMLI OPITZ SYNDROME; STEROL SYNTHESIS; URINARY EXCRETION;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CHOLESTEROL, DIETARY; FEEDBACK, BIOCHEMICAL; FEMALE; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; INFANT; MALE; MEVALONIC ACID; SMITH-LEMLI-OPITZ SYNDROME; STEROLS; TREATMENT OUTCOME;

EID: 0036794731     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: 10.1194/jlr.M200163-JLR200     Document Type: Article

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