Article
Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype.
Clinical chemistry - 1 Feb 2023
Bea Ana M, Cenarro Ana, Marco-Bened Victoria, Laclaustra Martn, Martn Csar, Ibarretxe Daiana, Pint Xavier, Arrobas Teresa, Vials Clara, Civeira Fernando, Olmos Salvador
Abstract excerpt
BACKGROUND: Familial dysbetalipoproteinemia (FDBL) is a monogenic disease due to variants in APOE with a highly variable phenotype. Current diagnostic lipid-based methods have important limitations. The objective is twofold: to define characteristics of dysbetalipoproteinemia (DBL) based on the analysis of APOE in patients from a lipid unit and in a sample from the general population, and to propose a screening...
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