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Article

[Genetic diagnosis on hypertriglyceridemia-analysis for LPL gene mutations].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 2013

Takagi Atsuko, Ikeda Yasuyuki

Abstract excerpt

Human LPL is a glycoprotein enzyme with a molecular mass of 61 kDa, and it plays a key role in regulating the triglyceride (TG) levels in circulation by hydrolyzing TGs in TG-rich lipoproteins at the first step in their metabolism. Homozygous or compound heterozygous LPL deficiency causes severe fasting hypertriglyceridemia. Heterozygous LPL deficiency usually results in a normolipidemic state, but this may cause...

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Source

Identifiers

PMID: 24205716

Genes

LPL
GPIHBP1

Provenance

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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