ArticleFrontiers in endocrinology2022
Identification and Characterization of Two Novel Compounds: Heterozygous Variants of
Article in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Association of HindIII Polymorphism of the Lipoprotein Lipase (LPL) Gene (rs320) and Plasma Metabolic Parameters in a Nigerian Population.Biochemical genetics · 2026Article
- The Substitution of Soybean Lecithin With Lysophospholipids Promoted the Growth Performance, Lipid Metabolism, and Reduced Dietary Lipid Inclusion for Pacific White Shrimp (Aquaculture nutrition · 2026Article
- Review
- Update of a Genetic Risk Score Predictive of the Plasma Triglyceride Response to an Omega-3 Fatty Acid Supplementation in the FAS Study.Nutrients · 2023Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
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Abstract
Background: Type I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is caused mainly by loss-of-function mutation of the Objective: This study aims to explore the molecular mechanisms underlying lipoprotein lipase deficiency in two pedigrees with type 1 hyperlipoproteinemia. Methods: We conducted a systematic clinical and genetic analysis of two pedigrees with type 1 hyperlipoproteinemia. Postheparin plasma of all the members was used for the LPL activity analysis. Results: Proband 1 developed acute pancreatitis in youth, and her serum triglycerides (TGs) continued to be at an ultrahigh level, despite the application of various lipid-lowering drugs. Proband 2 was diagnosed with type 1 hyperlipoproteinemia at 9 months of age, and his serum TG levels were mildly elevated with treatment. Two novel compound heterozygous variants of Conclusions: Two novel compound heterozygous variants of
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