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Journal Abstract Search

475 related items for PubMed ID: 25585702

  • 1. 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; 23(9):1259-61. PubMed ID: 25585702
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  • 5. A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.
    Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S.
    J Clin Lipidol; 2015 Sep; 9(2):265-70. PubMed ID: 25911085
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  • 6. Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence.
    Chyzhyk V, Kozmic S, Brown AS, Hudgins LC, Starc TJ, Davila AD, Blevins TC, Diffenderfer MR, He L, Geller AS, Rush C, Hegele RA, Schaefer EJ.
    J Clin Lipidol; 2019 Sep; 13(1):89-99. PubMed ID: 30352774
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  • 8. 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; 8(3):e1048. PubMed ID: 31962008
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  • 13. Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.
    Hölzl B, Kraft HG, Wiebusch H, Sandhofer A, Patsch J, Sandhofer F, Paulweber B.
    J Lipid Res; 2000 May; 41(5):734-41. PubMed ID: 10787434
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  • 16. Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.
    Rodríguez-Gutiérrez PG, Colima-Fausto AG, Zepeda-Olmos PM, Hernández-Flores TJ, González-García JR, Magaña-Torres MT.
    Int J Mol Sci; 2022 Dec 27; 24(1):. PubMed ID: 36613909
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  • 17. Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
    Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG.
    Arterioscler Thromb Vasc Biol; 2009 Jun 27; 29(6):956-62. PubMed ID: 19304573
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  • 20. 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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