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Article

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

Journal of clinical lipidology - 1 Jan 2000

Buonuomo Paola Sabrina, Bartuli Andrea, Rabacchi Claudio, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

BACKGROUND: Familial chylomicronemia is a genetic defect of the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. Intravascular lipolysis involves the TG-hydrolase lipoprotein lipase (LPL) as well as other factors such as apolipoprotein CII and apolipoprotein AV (activators of LPL), GPIHBP1 (the molecular platform required for LPL activity on endothelial surface), and LMF1 (a factor required for...

Read the complete abstract on PubMed

Topics

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Share to LPL gene
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertriglyceridemia

Share to Infant, Newborn

Share to Lipoprotein Lipase

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Share to Receptors, Lipoprotein

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 25911085
DOI: 10.1016/j.jacl.2014.10.003

Genes

LPL
GPIHBP1
LMF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.PMID 25911085Read ↗

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