Article
Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy.
QJM : monthly journal of the Association of Physicians - 1 Jan 1996
Watts G F, Mitchell W D, Bending J J, Reshef A, Leitersdorf E
Abstract excerpt
We examined the phenotypic characteristics, molecular genetics and optimal pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family with combined hyperlipidaemia. The proband presented in adulthood with classical clinical characteristics of CTX, a greater than tenfol...
Topics
- Adolescent
- Adult
- Aged
- Anticholesteremic Agents
- Chenodeoxycholic Acid
- Child
- Child, Preschool
- Cholagogues and Choleretics
- Cholestanetriol 26-Monooxygenase
- Cytochrome P-450 Enzyme System
- England
- Exons
- Female
- Humans
- Hyperlipidemia, Familial Combined
- Lovastatin
- Male
- Middle Aged