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Article

Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience.

European journal of preventive cardiology - 1 Jul 2018

Buonuomo Paola S, Macchiaiolo Marina, Leone Giovanna, Valente Paola, Mastrogiorgio Gerarda, Gnazzo Maria, Rana Ippolita, Gonfiantini Michaela V, Gagliardi Maria G, Romano Francesca, Bartuli Andrea

Abstract excerpt

Background Homozygous familial hypercholesterolaemia is a rare life-threatening disease characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) concentrations and accelerated atherosclerosis. The presence of double gene defects in the LDL-Receptor, either the same defect (homozygous) or two different LDL-raising mutations (compound heterozygotes) or other variants, identify the homozygous...

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Identifiers

PMID: 29785886
DOI: 10.1177/2047487318776836

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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