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Article

Autosomal recessive hypercholesterolemia in Spain.

Atherosclerosis - 1 Feb 2018

Sánchez-Hernández Rosa María, Prieto-Matos Pablo, Civeira Fernando, Lafuente Eduardo Esteve, Vargas Manuel Frías, Real José T, Goicoechea Fernando Goñi, Fuentes Francisco J, Pocovi Miguel, Boronat Mauro, Wägner Ana María, Masana Luis

Abstract excerpt

BACKGROUND AND AIMS: Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. METHODS: Data were collected from the Dyslipidemia Registry of the Spanish...

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Source

Identifiers

PMID: 29245109
DOI: 10.1016/j.atherosclerosis.2017.12.006

Genes

LDLRAP1
PCSK9

Provenance

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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