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
Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
Hu Y et al.
Lipids in Health and Disease, 2024
Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review.
El-Koofy NM et al.
Lipids in Health and Disease, 2021
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.
Shi XL et al.
Molecular Genetics & Genomic Medicine, 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
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.
D'Erasmo L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
Rodrigues R et al.
Journal of Clinical Lipidology, 0
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