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
Genetic basis of hypertriglyceridemia.
Ariza Corbo MJ et al.
Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 2024
Genetic variation in apolipoprotein A-V in hypertriglyceridemia.
Perera SD et al.
Current Opinion in Lipidology, 2024
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
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › Other_APO_genes
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M et al.
Plos One, 2014
24788417 (PubMed )
Supplement: pone.0096482.s005.doc
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.
Mendoza-Barberá E et al.
Journal of Lipid Research, 2013
Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.
Pisciotta L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.
De Castro-Orós I et al.
Journal of Clinical Lipidology, 0
Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk.
Thériault S et al.
Journal of Clinical Lipidology, 0
Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
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