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Article

Homozygous familial hypercholesterolemia and its management.

Seminars in vascular medicine - 1 Feb 2004

Marais Adrian David, Firth Jean Catherine, Blom Dirk Jacobus

Abstract excerpt

Mutations in the low-density lipoprotein (LDL) receptor gene cause familial hypercholesterolemia. In homozygous familial hypercholesterolemia, both genes for the LDL- receptor are mutated and LDL levels are markedly elevated. High-density lipoprotein cholesterol concentration is often reduced and lipoprotein(a) levels are high when corrected for apolipoprotein(a) isoforms. Cutaneous and tendinous xanthomata...

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Source

Identifiers

PMID: 15199432
DOI: 10.1055/s-2004-822985

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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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