No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome

Journal of Inherited Metabolic Disease

Volumn 35, Issue 5, 2012, Pages 859-869

  Roullet, Jean Baptiste ^a   Merkens, Louise S ^a   Pappu, Anuradha S ^a,b   Jacobs, Megan D ^a   Winter, Rolf ^c   Connor, William E ^d   Steiner, Robert D ^e  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c PORTLAND VA MEDICAL CENTER   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e Oregon Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; 7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL; ISOPRENOID; MEVALONIC ACID; OXIDOREDUCTASE; SIMVASTATIN; STEROL; UNCLASSIFIED DRUG;

AGE; ARTICLE; BODY WEIGHT; CHILD; CHOLESTEROL DIET; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; DIET SUPPLEMENTATION; DIETARY INTAKE; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ACTIVATION; ENZYME DEFICIENCY; FEMALE; HUMAN; LIPID BLOOD LEVEL; MALE; METABOLISM; MEVALONATE SHUNT PATHWAY; PRESCHOOL CHILD; SEX DIFFERENCE; SMITH LEMLI OPITZ SYNDROME; STEROL SYNTHESIS; URINARY EXCRETION; URINE LEVEL;

CHILD; CHOLESTEROL; CHOLESTEROL, DIETARY; DEHYDROCHOLESTEROLS; DIET, HIGH-FAT; DIETARY SUPPLEMENTS; FEMALE; GLUTARATES; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; MALE; MEVALONIC ACID; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SIMVASTATIN; SMITH-LEMLI-OPITZ SYNDROME; TERPENES;

EID: 84866739577     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9453-6     Document Type: Article

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