Associated Papers
A Case of Diabetes With a Rare Variant of Familial Combined Hyperlipidemia With an Atypical Phenotype.
Bhade K et al.
Cureus, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
39858602 (PubMed )
Supplement: genes-16-00055-s001.zip › genes-3401157-supplementary.pdf
Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
Hu Y et al.
Lipids in Health and Disease, 2024
The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.
Hu Y et al.
Lipids in Health and Disease, 2023
Structure of dimeric lipoprotein lipase reveals a pore adjacent to the active site.
Gunn KH et al.
Nature Communications, 2023
Structure of Dimeric Lipoprotein Lipase Reveals a Pore for Hydrolysis of Acyl Chains.
Gunn KH et al.
Biorxiv : the Preprint Server for Biology, 2023
Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency.
Li Y et al.
Frontiers in Genetics, 2022
Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.
Wu YQ et al.
Bmc Pediatrics, 2021
A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.
Wang F et al.
Frontiers in Pediatrics, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Jin JL et al.
Ebiomedicine, 2018
30420299 (PubMed )
Supplement: mmc1.pdf
Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Qin YY et al.
Journal of Clinical Laboratory Analysis, 2018
Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.
Zhang Y et al.
Lipids in Health and Disease, 2016
[The effect of lipoprotein lipase (LPL) polymorphism on plasma LPL concentration and triglyceride].
Liu J et al.
Zhonghua Yi Xue Za Zhi, 2005
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
Rodrigues R et al.
Journal of Clinical Lipidology, 0
Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach.
Khovidhunkit W et al.
Journal of Clinical Lipidology, 0
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
Xia Y et al.
Journal of Clinical Lipidology, 0
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