Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel PPARG mutation in multiple family members with chylomicronemia.

Journal of clinical lipidology - 1 Jan 2000

Glodowski Michele, Christen Shannon, Saxon David R, Hegele Robert A, Eckel Robert H

Abstract excerpt

Chylomicronemia is characterized by severe hypertriglyceridemia when chylomicrons persist in plasma despite a fasting state. The recessive monogenic form is due to homozygous or compound heterozygous loss-of-function mutations in the LPL gene or genes involved in the assembly, transport, or function of LPL, including APOC2, APOA5, GP1HBP1, and LMF1. The multifactorial form of chylomicronemia is due to both common...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Chylomicrons
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Hypertriglyceridemia

Share to Infant

Share to Pedigree

Share to PPAR gamma

Source

Identifiers

PMID: 33832869
DOI: 10.1016/j.jacl.2021.03.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel PPARG mutation in multiple family members with chylomicronemia.PMID 33832869Read ↗

Understanding Hypertriglyceridemia: Integrating Genetic InsightsSemantic proximity Read ↗

Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.Semantic proximity Read ↗

Molecular and functional characterization of familial chylomicronemia syndrome.Semantic proximity Read ↗

Genetics of Hypertriglyceridemia.Semantic proximity Read ↗

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia SyndromesSemantic proximity Read ↗

Genetic dyslipidemias.Semantic proximity Read ↗

Genetic basis of hypertriglyceridemia.Semantic proximity Read ↗

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.Semantic proximity Read ↗

Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.Semantic proximity Read ↗

Clinical heterogeneity in monogenic chylomicronaemia.Semantic proximity Read ↗

Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants in LPL, APOC2, APOA5, GPIHBP1, LMF1, APOE and Polygenic Risk.Semantic proximity Read ↗

The Genetic Basis of Hypertriglyceridemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.