Autosomal recessive hypercholesterolemia in Spain
Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain.
Source: Atherosclerosis - Category: Cardiology Authors: Rosa Mar ía Sánchez-Hernández, Pablo Prieto-Matos, Fernando Civeira, Eduardo Esteve Lafuente, Manuel Frías Vargas, José T. Real, Fernando Goñi Goicoechea, Francisco J. Fuentes, Miguel Pocovi, Mauro Boronat, Ana María Wägner, Luis Masana Source Type: research