Associated Papers
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
Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.
Szczęśniak D et al.
Archives of Medical Science : Ams, 2025
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
38969064 (PubMed )
Supplement: mmc1.pdf
Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.
Ain Q et al.
Frontiers in Endocrinology, 2024
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
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
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
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
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
Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
Buonuomo PS et al.
Journal of Clinical Lipidology, 0
Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.
Hegele RA et al.
Journal of Clinical Lipidology, 0
Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia.
Strøm TB et al.
Journal of Clinical Lipidology, 0
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