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Journal Abstract Search

338 related items for PubMed ID: 24291057

  • 1. Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
    Martín-Campos JM, Julve J, Roig R, Martínez S, Errico TL, Martínez-Couselo S, Escolà-Gil JC, Méndez-González J, Blanco-Vaca F.
    Clin Chim Acta; 2014 Feb 15; 429():61-8. PubMed ID: 24291057
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  • 2. Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.
    Chokshi N, Blumenschein SD, Ahmad Z, Garg A.
    J Clin Lipidol; 2014 Feb 15; 8(3):287-95. PubMed ID: 24793350
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  • 3. Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
    Buonuomo PS, Rabacchi C, Macchiaiolo M, Trenti C, Fasano T, Tarugi P, Bartuli A, Bertolini S, Calandra S.
    J Clin Lipidol; 2017 Feb 15; 11(6):1329-1337.e3. PubMed ID: 28951076
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  • 6. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
    Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, Kuivenhoven JA, Hosseini M, Péterfy M, Kastelein JJ, Johansen CT, Hegele RA, Stroes ES, Dallinga-Thie GM.
    J Intern Med; 2012 Aug 15; 272(2):185-96. PubMed ID: 22239554
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  • 9. Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.
    Hegele RA, Berberich AJ, Ban MR, Wang J, Digenio A, Alexander VJ, D'Erasmo L, Arca M, Jones A, Bruckert E, Stroes ES, Bergeron J, Civeira F, Witztum JL, Gaudet D.
    J Clin Lipidol; 2018 Aug 15; 12(4):920-927.e4. PubMed ID: 29748148
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  • 10. APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
    Calandra S, Priore Oliva C, Tarugi P, Bertolini S.
    Curr Opin Lipidol; 2006 Apr 15; 17(2):122-7. PubMed ID: 16531747
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  • 12. Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
    Hu Y, Chen JM, Zuo H, Pu N, Zhang G, Duan Y, Li G, Tong Z, Li W, Li B, Yang Q.
    Lipids Health Dis; 2024 Apr 01; 23(1):92. PubMed ID: 38561841
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  • 15. Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.
    Hooper AJ, Kurtkoti J, Hamilton-Craig I, Burnett JR.
    Ann Clin Biochem; 2014 Jul 01; 51(Pt 4):485-9. PubMed ID: 24591733
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  • 16. Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.
    Lamiquiz-Moneo I, Blanco-Torrecilla C, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Baila-Rueda L, Cenarro A, Civeira F, de Castro-Orós I.
    Lipids Health Dis; 2016 Apr 23; 15():82. PubMed ID: 27108409
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  • 18. Severe hypertriglyceridemia is primarily polygenic.
    Dron JS, Wang J, Cao H, McIntyre AD, Iacocca MA, Menard JR, Movsesyan I, Malloy MJ, Pullinger CR, Kane JP, Hegele RA.
    J Clin Lipidol; 2019 Apr 23; 13(1):80-88. PubMed ID: 30466821
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  • 19. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
    Zhang G, Hu Y, Yang Q, Pu N, Li G, Zhang J, Tong Z, Masson E, Cooper DN, Chen JM, Li W.
    Lipids Health Dis; 2023 Aug 11; 22(1):128. PubMed ID: 37568214
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  • 20. Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia.
    De Castro-Orós I, Cenarro A, Tejedor MT, Baila-Rueda L, Mateo-Gallego R, Lamiquiz-Moneo I, Pocoví M, Civeira F.
    Circ Cardiovasc Genet; 2014 Dec 11; 7(6):814-21. PubMed ID: 25176936
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