No abstract available
MeSH terms
-
Adult
-
Cataract / blood*
-
Cataract / urine
-
Cataract Extraction
-
Chenodeoxycholic Acid / therapeutic use
-
Cholestanetriol 26-Monooxygenase
-
Cholestanol / blood*
-
Cholestanols / urine
-
DNA Mutational Analysis
-
Female
-
Humans
-
Male
-
Mutation
-
Steroid Hydroxylases / genetics
-
Xanthomatosis, Cerebrotendinous / diagnosis*
-
Xanthomatosis, Cerebrotendinous / drug therapy
-
Xanthomatosis, Cerebrotendinous / genetics
Substances
-
Cholestanols
-
Chenodeoxycholic Acid
-
Cholestanol
-
Steroid Hydroxylases
-
CYP27A1 protein, human
-
Cholestanetriol 26-Monooxygenase