Malformation syndromes due to inborn errors of cholesterol synthesis

Journal of Clinical Investigation

Volumn 110, Issue 6, 2002, Pages 715-724

  Porter, Forbes D ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXYSTEROL DELTA 24 REDUCTASE; 3BETA HYDROXYSTEROL DELTA 7 REDUCTASE; 3BETA HYDROXYSTEROL DELTA 7 REDUCTASE INHIBITOR; CHOLESTEROL; ENZYME INHIBITOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FRESH FROZEN PLASMA; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; OXIDOREDUCTASE; PROTEIN; PROTEIN NSDHL; SIMVASTATIN; SONIC HEDGEHOG PROTEIN; STEROL DERIVATIVE; UNCLASSIFIED DRUG;

ALLELE; ANTLEY BIXLER SYNDROME; BLOOD BRAIN BARRIER; CENTRAL NERVOUS SYSTEM FUNCTION; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CLINICAL TRIAL; DESMOSTEROLOSIS; DIET SUPPLEMENTATION; DRUG EFFECT; DRUG EFFICACY; DRUG MECHANISM; DRUG PENETRATION; GENOTYPE; GREENBERG DYSPLASIA; HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA NEVUS AND LIMB DEFECT; HISTOPATHOLOGY; HUMAN; INBORN ERROR OF METABOLISM; MALFORMATION SYNDROME; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; REVIEW; SIGNAL TRANSDUCTION; SMITH LEMLI OPITZ SYNDROME; TREATMENT OUTCOME;

EID: 0036738385     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0216386     Document Type: Review

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