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Article

Molecular mechanisms of autosomal recessive hypercholesterolemia

1 Apr 2003

Abstract excerpt

PURPOSE OF REVIEW: Autosomal recessive hypercholesterolemia (ARH) is a rare Mendelian dyslipidemia characterized by markedly elevated plasma LDL levels, xanthomatosis, and premature coronary artery disease. LDL receptor function is normal, or only moderately impaired in fibroblasts from ARH patients, but their cultured lymphocytes show increased cell-surface LDL binding, and impaired LDL degradation, consistent...

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Identifiers

PMID: 12642779
DOI: 10.1097/00041433-200304000-00002

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