Article
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.
Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 1997
Asami T, Inano K, Miida T, Kikuchi T, Uchiyama M
Abstract excerpt
The ocuolocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder which is characterized by renal tubular dysfunction, congenital cataracts, and cognitive impairment. In a review article by Charnas et al. (N Engl J Med 1991; 324: 1318-25), hypercholesterolemia, due to elevated high...
Topics
- Adolescent
- Adult
- Carrier Proteins
- Child
- Child, Preschool
- Cholesterol Ester Transfer Proteins
- Cholesterol, HDL
- DNA Mutational Analysis
- Female
- Genetic Testing
- Glycoproteins
- Humans
- Hypercholesterolemia
- Infant
- Male
- Mutation
- Oculocerebrorenal Syndrome
- Pedigree