Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge

Biochemical and Biophysical Research Communications

Volumn 396, Issue 1, 2010, Pages 46-49

  Björkhem, Ingemar ^a   Hansson, Magnus ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

7 Hydroxy 4 cholesten 3 one; Cholestanol; CYP27A1; CYP7A1

Indexed keywords

7ALPHA HYDROXYCHOLEST 4 EN 3 ONE; BILE ACID; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTANOL; CHOLESTEROL 7ALPHA MONOOXYGENASE; STEROL; UNCLASSIFIED DRUG;

ARTICLE; BILE ACID SYNTHESIS; BLOOD BRAIN BARRIER; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL TRANSPORT; ENZYME ACTIVITY; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; NONHUMAN; OXIDATION; PRIORITY JOURNAL; XANTHOMA;

ANIMALS; BILE ACIDS AND SALTS; CHOLESTANOL; CHOLESTENONES; CHOLESTEROL 7-ALPHA-HYDROXYLASE; CYTOCHROME P-450 CYP27A1; DISEASE MODELS, ANIMAL; MICE; MUTATION; XANTHOMATOSIS, CEREBROTENDINOUS;

ANIMALIA; MUS;

EID: 77952304021     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.02.140     Document Type: Article

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