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Article

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.

Atherosclerosis - 1 Oct 2006

Pisciotta Livia, Priore Oliva Claudio, Pes Giovanni Mario, Di Scala Lilla, Bellocchio Antonella, Fresa Raffaele, Cantafora Alfredo, Arca Marcello, Calandra Sebastiano, Bertolini Stefano

Abstract excerpt

Autosomal recessive hypercholesterolemia (ARH) is a rare disorder, due to complete loss of function of an adaptor protein (ARH protein) required for receptor-mediated hepatic uptake of LDL. ARH is a phenocopy of homozygous familial hypercholesterolemia (HoFH) due to mutations in LDL receptor (LDLR) gene; however, previous studies suggested that ARH phenotype is less severe than that of HoFH. To test this...

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Identifiers

PMID: 16343504
DOI: 10.1016/j.atherosclerosis.2005.11.016

Genes

CAD
LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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