Associated Papers
Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.
Cao C et al.
Journal of Atherosclerosis and Thrombosis, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1
The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update.
Dabravolski SA et al.
Sage Open Medicine, 2024
LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.
Perrone B et al.
Journal of Translational Medicine, 2022
A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia.
Guo D et al.
Frontiers in Genetics, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2
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
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
Rabacchi C et al.
Atherosclerosis, 2015
Lipoprotein lipase gene sequencing and plasma lipid profile.
Pirim D et al.
Journal of Lipid Research, 2014
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP et al.
Journal of Internal Medicine, 2012
Genetic screening of the LPL gene in hypertriglyceridaemic patients.
Wright WT et al.
Atherosclerosis, 2008
Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.
Sabbagh A et al.
Bmc Genetics, 2008
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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