Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2020.06.002
Abstract: Autosomal recessive hypercholesterolemia is a rare genetic disorder due to homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 gene (LDLRAP1), resulting in elevated low-density lipoprotein cholesterol (LDL-C) levels, large… read more here.
Keywords: recessive hypercholesterolemia; autosomal recessive; syrian ancestry; mutation ... See more keywords
Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.937750
Abstract: Background and aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholesterolemia, ARH is resistant to conventional… read more here.
Keywords: lomitapide; recessive hypercholesterolemia; treatment; autosomal recessive ... See more keywords