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Article

What is the phenotype of heterozygous lipoprotein lipase deficiency?

Current opinion in lipidology - 1 Apr 2025

Hegele Robert A

Abstract excerpt

PURPOSE OF REVIEW: Genetic testing of patients with severe hypertriglyceridemia often identifies a single heterozygous pathogenic variant in the LPL gene. The complex and variable phenotype associated with this genotype is the topic of this review. RECENT FINDINGS: Previous research showed that heterozygosity for lipoprotein lipase deficiency is associated with reduced but variable post heparin lipolytic activity...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40223670
DOI: 10.1097/MOL.0000000000000974
PMCID: PMC11888829

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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