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Journal Abstract Search

185 related items for PubMed ID: 38561841

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  • 3. Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
    Li XY, Pu N, Chen WW, Shi XL, Zhang GF, Ke L, Ye B, Tong ZH, Wang YH, Liu G, Chen JM, Yang Q, Li WQ, Li JS.
    Lipids Health Dis; 2020 Apr 07; 19(1):63. PubMed ID: 32264896
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  • 5. Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.
    Shi XL, Yang Q, Pu N, Li XY, Chen WW, Zhou J, Li G, Tong ZH, Férec C, Cooper DN, Chen JM, Li WQ.
    Mol Genet Genomic Med; 2020 Mar 07; 8(3):e1048. PubMed ID: 31962008
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  • 6. Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.
    Caddeo A, Mancina RM, Pirazzi C, Russo C, Sasidharan K, Sandstedt J, Maurotti S, Montalcini T, Pujia A, Leren TP, Romeo S, Pingitore P.
    Nutr Metab Cardiovasc Dis; 2018 Feb 07; 28(2):158-164. PubMed ID: 29288010
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  • 7. Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.
    Li X, Yang Q, Shi X, Chen W, Pu N, Li W, Li J.
    Lipids Health Dis; 2018 Jun 19; 17(1):144. PubMed ID: 29921298
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  • 8. 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 19; 272(2):185-96. PubMed ID: 22239554
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  • 9. 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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  • 10. New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.
    Serveaux Dancer M, Di Filippo M, Marmontel O, Valéro R, Piombo Rivarola MDC, Peretti N, Caussy C, Krempf M, Vergès B, Mahl M, Marçais C, Moulin P, Charrière S.
    J Clin Lipidol; 2018 Feb 15; 12(5):1244-1252. PubMed ID: 30037590
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  • 11. A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis.
    Chen TZ, Xie SL, Jin R, Huang ZM.
    Lipids Health Dis; 2014 Mar 19; 13():52. PubMed ID: 24646025
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  • 12. 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 Mar 19; 11(6):1329-1337.e3. PubMed ID: 28951076
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  • 13. 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 Mar 19; 12(4):920-927.e4. PubMed ID: 29748148
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  • 14. Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach.
    Khovidhunkit W, Charoen S, Kiateprungvej A, Chartyingcharoen P, Muanpetch S, Plengpanich W.
    J Clin Lipidol; 2016 Mar 19; 10(3):505-511.e1. PubMed ID: 27206937
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  • 15. Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
    Kassner U, Salewsky B, Wühle-Demuth M, Szijarto IA, Grenkowitz T, Binner P, März W, Steinhagen-Thiessen E, Demuth I.
    Eur J Hum Genet; 2015 Sep 19; 23(9):1259-61. PubMed ID: 25585702
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  • 16. Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
    Rabacchi C, Pisciotta L, Cefalù AB, Noto D, Fresa R, Tarugi P, Averna M, Bertolini S, Calandra S.
    Atherosclerosis; 2015 Jul 19; 241(1):79-86. PubMed ID: 25966443
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  • 17. Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking.
    Chen WW, Yang Q, Li XY, Shi XL, Pu N, Lu GT, Tong ZH, Chen JM, Li WQ.
    Lipids Health Dis; 2019 Mar 18; 18(1):68. PubMed ID: 30885219
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  • 18. Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.
    Cao C, Liu Y, Liu L, Wang X.
    J Atheroscler Thromb; 2024 Jul 01; 31(7):1106-1111. PubMed ID: 38462482
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  • 19. Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.
    Xie SL, Chen TZ, Huang XL, Chen C, Jin R, Huang ZM, Zhou MT.
    PLoS One; 2015 Jul 01; 10(6):e0129488. PubMed ID: 26079787
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  • 20. Molecular and functional characterization of familial chylomicronemia syndrome.
    Teramoto R, Tada H, Kawashiri MA, Nohara A, Nakahashi T, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K.
    Atherosclerosis; 2018 Feb 01; 269():272-278. PubMed ID: 29153744
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