Sterol 27-hydroxylase deficiency: A rare cause of xanthomas in normocholesterolemic humans

Trends in Endocrinology and Metabolism

Volumn 11, Issue 5, 2000, Pages 180-183

  Björkhem, Ingemar ^a   Leitersdorf, Eran ^b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; CHOLESTEROL; CHOLESTEROL 7ALPHA MONOOXYGENASE; STEROL 27 HYDROXYLASE;

BILE ACID SYNTHESIS; BIOACCUMULATION; CEREBROTENDINOUS XANTHOMATOSIS; ENZYME DEFICIENCY; EXPERIMENTAL ANIMAL; GENE MUTATION; HUMAN; HYDROXYLATION; METABOLITE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; XANTHOMA;

ANIMALS; CHOLESTANOL; CHOLESTEROL; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DISEASE MODELS, ANIMAL; HUMANS; METABOLISM, INBORN ERRORS; MUTATION; REFERENCE VALUES; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0343953577     PISSN: 10432760     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1043-2760(00)00255-1     Document Type: Review

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