Associated Papers
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 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
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning.
Ivanoshchuk DE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 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
Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).
Shakhtshneider E et al.
Journal of Personalized Medicine, 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
Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Qin YY et al.
Journal of Clinical Laboratory Analysis, 2018
Molecular and functional characterization of familial chylomicronemia syndrome.
Teramoto R et al.
Atherosclerosis, 2018
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.
Vidanapathirana DM et al.
Global Pediatric Health, 2017
Implementation of genomic medicine in Sri Lanka: Initial experience and challenges.
Sirisena ND et al.
Applied & Translational Genomics, 2016
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
Rabacchi C et al.
Atherosclerosis, 2015
Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
Martín-Campos JM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP et al.
Journal of Internal Medicine, 2012
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 and biochemical features of different molecular etiologies of familial chylomicronemia.
Hegele RA et al.
Journal of Clinical Lipidology, 0