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Article

Autosomal recessive hypercholesterolemia: update for 2020.

Current opinion in lipidology - 1 Apr 2020

D'Erasmo Laura, Di Costanzo Alessia, Arca Marcello

Abstract excerpt

PURPOSE OF REVIEW: This review summarizes the current knowledge regarding autosomal recessive hypercholesterolemia (ARH) and provides new insight into the natural history and therapeutic management of this lipid disorder. RECENT FINDINGS: Novel homozygous and compound heterozygous ARH-causing mutations have been reported in the literature, to date. The long-term follow-up of a cohort of ARH patients demonstrated...

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Identifiers

PMID: 32011344
DOI: 10.1097/MOL.0000000000000664

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