Article
Autosomal recessive hypercholesterolemia.
Seminars in vascular medicine - 1 Aug 2004
Soutar Anne K, Naoumova Rossitza P
Abstract excerpt
Autosomal recessive hypercholesterolemia (ARH) presents with a clinical phenotype similar to that of classical homozygous familial hypercholesterolemia (FH) caused by defects in the low-density lipoprotein (LDL) receptor gene but is more variable, generally less severe, and more responsive to lipid-lowering therapy than homozygous FH; furthermore, FH is inherited with a dominant pattern. The approximately 50...
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