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Article

Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.

Journal of clinical lipidology - 1 Jan 2000

Alonso Rodrigo, Díaz-Díaz Jose Luis, Arrieta Francisco, Fuentes-Jiménez Francisco, de Andrés Raimundo, Saenz Pedro, Ariceta Gema, Vidal-Pardo José I, Almagro Fatima, Argueso Rosa, Prieto-Matos Pablo, Miramontes José P, Pintó Xavier, Rodriguez-Urrego Johana, Perez de Isla Leopoldo, Mata Pedro

Abstract excerpt

BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder associated with very high levels of cholesterol, accelerated atherosclerosis and very premature death, often secondary to occlusion of the coronary ostia by supravalvular atheroma in untreated individuals. OBJECTIVE: To describe molecular and clinical characteristics of HoFH enrolled at SAFEHEART registry and to evaluate the...

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PMID: 27578128
DOI: 10.1016/j.jacl.2016.04.006

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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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