Associated Papers
The Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome.
Fariña G et al.
Biochemistry and Biophysics Reports, 2025
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
What is the phenotype of heterozygous lipoprotein lipase deficiency?
Hegele RA
Current Opinion in Lipidology, 2025
Treatment With Evinacumab Links a New Pathogenic Variant in the LPL Gene to Persistent Chylomicronemia.
Larouche M et al.
Journal of the Endocrine Society, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.
Banerjee S et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2025
Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.
Szczęśniak D et al.
Archives of Medical Science : Ams, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Bashir B et al.
Genetics in Medicine Open, 2025
Genetic basis of hypertriglyceridemia.
Ariza Corbo MJ et al.
Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 2024
Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.
Bashir B et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.
Bardey F et al.
Journal of Lipid Research, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Refining Evaluation of Bone Mass and Adipose Distribution in Dunnigan Syndrome.
Moreira MLM et al.
International Journal of Molecular Sciences, 2023
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
Zhang G et al.
Lipids in Health and Disease, 2023
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Rosenson RS et al.
Nature Medicine, 2023
Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023.
Izar MCO et al.
Arquivos Brasileiros De Cardiologia, 2023
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.
Abedi AH et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2023
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Volanesorsen: A New Era in the Treatment of Severe Hypertriglyceridemia.
Kolovou G et al.
Journal of Clinical Medicine, 2022
Severe hypertriglyceridemia as a cause of necrotizing pancreatitis in a pediatric patient with familial hyperchylomicronemia syndrome: A case report.
Valenzuela-Vallejo L et al.
Sage Open Medical Case Reports, 2022
Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.
Ayoub C et al.
Frontiers in Genetics, 2022
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study.
Thajer A et al.
Children (basel, Switzerland), 2021
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
Rare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial Chylomicronemia Syndrome.
Paquette M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Lipoprotein Lipase Deficiency.
Kuthiroly S et al.
Indian Journal of Pediatrics, 2021
Triglycerides and remnant cholesterol associated with risk of aortic valve stenosis: Mendelian randomization in the Copenhagen General Population Study.
Kaltoft M et al.
European Heart Journal, 2020
The burden of familial chylomicronemia syndrome in Canadian patients.
Gaudet D et al.
Lipids in Health and Disease, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
Li XY et al.
Lipids in Health and Disease, 2020
Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis.
Ariza MJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia.
Paquette M et al.
Atherosclerosis, 2019
Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia.
Tanaka S et al.
Internal Medicine (tokyo, Japan), 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.
Caddeo A et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2018
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Dron JS et al.
Journal of Lipid Research, 2017
Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency.
Colima Fausto AG et al.
Annals of Laboratory Medicine, 2017
Exceptionally elevated triglyceride in severe lipemia retinalis.
Yin HY et al.
International Medical Case Reports Journal, 2016