Human malformation syndromes due to inborn errors of cholesterol synthesis

Current Opinion in Pediatrics

Volumn 15, Issue 6, 2003, Pages 607-613

  Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Cholesterol synthesis; Human malformation syndromes; Smith Lemli Opitz syndrome

Indexed keywords

CHOLESTEROL; SIMVASTATIN;

ANTLEY BIXLER SYNDROME; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC PROCEDURE; DIET THERAPY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; MALFORMATION SYNDROME; NONHUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SIDE EFFECT; SMITH LEMLI OPITZ SYNDROME;

ABNORMALITIES, MULTIPLE; CHOLESTEROL; METABOLISM, INBORN ERRORS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0345255889     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200312000-00011     Document Type: Review

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