Associated Papers
Heterogeneous nature of severe hypertriglyceridemia in childhood.
Ariza MJ et al.
Journal of Clinical Lipidology, 2026
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Genetic variation in apolipoprotein A-V in hypertriglyceridemia.
Perera SD et al.
Current Opinion in Lipidology, 2024
Single coronary artery presenting dilated cardiomyopathy and hyperlipidemia with the SCN5A and APOA5 gene mutation: A case report and review of the literature.
Hu X et al.
Frontiers in Cardiovascular Medicine, 2023
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Jin JL et al.
Ebiomedicine, 2018
30420299 (PubMed )
Supplement: mmc1.pdf
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
29868112 (PubMed )
Supplement: Table_1.DOCX
Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.
Hooper AJ et al.
Annals of Clinical Biochemistry, 2014
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.
Mendoza-Barberá E et al.
Journal of Lipid Research, 2013
Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.
Gong Z et al.
Journal of Clinical Lipidology, 0
Select a paper to view details