Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 4, 2012, Pages 285-294

  Svoboda, Melissa D ^a,b   Christie, Jill M ^a   Eroglu, Yasemen ^c,d   Freeman, Kurt A ^e   Steiner, Robert D ^f  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

^d Department of Human Genetics ^*  (United States)

^e WEST VIRGINIA UNIVERSITY   (United States)

^f University of Wisconsin   (United States)

Author keywords

Behavior; Cholesterol supplementation; Simvastatin; Smith Lemli Opitz syndrome; Sterol disorders

Indexed keywords

7 DEHYDROCHOLESTEROL; BILE ACID; CHENODEOXYCHOLIC ACID; CHOLESTEROL; CHOLIC ACID; ETANERCEPT; FARNESOL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; ISOPRENOID; MEVALONIC ACID; MEVINOLIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SIMVASTATIN; SITOSTEROL; STEROL; TAUROURSODEOXYCHOLIC ACID; URSOCHOLIC ACID; URSODEOXYCHOLIC ACID;

AGGRESSION; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; AUTOMUTILATION; BLOOD BRAIN BARRIER; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CREATINE KINASE BLOOD LEVEL; DIARRHEA; DIET SUPPLEMENTATION; DIET THERAPY; DISORDERS OF CHOLESTEROL METABOLISM; DRUG DOSE COMPARISON; DRUG MEGADOSE; DRUG WITHDRAWAL; HORMONAL THERAPY; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; LIVER DYSFUNCTION; LOW DRUG DOSE; MEVALONATE KINASE DEFICIENCY; MEVALONIC ACIDURIA; NIEMANN PICK DISEASE; NONHUMAN; PRIORITY JOURNAL; RHABDOMYOLYSIS; SIDE EFFECT; SJOEGREN LARSSON SYNDROME; SMITH LEMLI OPITZ SYNDROME; STEROL METABOLISM; SUBSTITUTION THERAPY;

BEHAVIOR THERAPY; BILE ACIDS AND SALTS; CHOLESTEROL, DIETARY; CLINICAL TRIALS AS TOPIC; DIETARY SUPPLEMENTS; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; SMITH-LEMLI-OPITZ SYNDROME; STEROID METABOLISM, INBORN ERRORS; STEROLS; TREATMENT OUTCOME;

EID: 84867918244     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31347     Document Type: Article

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