Cholesteryl Ester Storage Disease (CESD): clinical, laboratory and histological characteristics in 6 patients

Abstract

Prevalence of CESD in the Czech Republic contrasts with the estimated prevalence and indicates significant underdiagnosis. The existence of a new treatment option requires early intervention and centralization of care for patients with CESD.

Keywords

• Cholesteryl
• Ester
• Storage
• Disease
• CESD
• clinical
• laboratory
• histological
• characteristics
• patients