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Journal Abstract Search

234 related items for PubMed ID: 37568214

  • 21. Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report.
    Shi H, Wang Z.
    Transl Pediatr; 2022 Oct; 11(10):1717-1725. PubMed ID: 36345447
    [Abstract] [Full Text] [Related]

  • 22. AAV-mediated hepatic LPL expression ameliorates severe hypertriglyceridemia and acute pancreatitis in Gpihbp1 deficient mice and rats.
    Yuan C, Xu Y, Lu G, Hu Y, Mao W, Ke L, Tong Z, Xia Y, Ma S, Dong X, Xian X, Wu X, Liu G, Li B, Li W.
    Mol Ther; 2024 Jan 03; 32(1):59-73. PubMed ID: 37974401
    [Abstract] [Full Text] [Related]

  • 23. Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.
    De Castro-Orós I, Civeira F, Pueyo MJ, Mateo-Gallego R, Bolado-Carrancio A, Lamíquiz-Moneo I, Álvarez-Sala L, Fabiani F, Cofán M, Cenarro A, Rodríguez-Rey JC, Ros E, Pocoví M.
    J Clin Lipidol; 2016 Jan 03; 10(4):790-797. PubMed ID: 27578109
    [Abstract] [Full Text] [Related]

  • 24. 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 03; 272(2):185-96. PubMed ID: 22239554
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis.
    Ariza MJ, Pérez-López C, Almagro F, Sánchez-Tévar AM, Muñiz-Grijalvo O, Álvarez-Sala Walter LA, Rioja J, Sánchez-Chaparro MÁ, Valdivielso P.
    Clin Chim Acta; 2020 Jan 18; 500():163-171. PubMed ID: 31669931
    [Abstract] [Full Text] [Related]

  • 27. Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010-2020: a cross-sectional study.
    Rodriguez FH, Estrada JM, Quintero HMA, Nogueira JP, Porras-Hurtado GL.
    Lipids Health Dis; 2023 Mar 28; 22(1):43. PubMed ID: 36978188
    [Abstract] [Full Text] [Related]

  • 28. Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan.
    Jap TS, Jenq SF, Wu YC, Chiu CY, Cheng HM.
    Pancreas; 2003 Aug 28; 27(2):122-6. PubMed ID: 12883259
    [Abstract] [Full Text] [Related]

  • 29. Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.
    Wang M, Zhou Y, He X, Deng C, Liu X, Li J, Zhou L, Li Y, Zhang Y, Liu H, Li L.
    Clin Chim Acta; 2021 Oct 28; 521():264-271. PubMed ID: 34324844
    [Abstract] [Full Text] [Related]

  • 30. Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.
    Falko JM.
    Endocr Pract; 2018 Aug 28; 24(8):756-763. PubMed ID: 30183397
    [Abstract] [Full Text] [Related]

  • 31. Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.
    D'Erasmo L, Di Costanzo A, Cassandra F, Minicocci I, Polito L, Montali A, Ceci F, Arca M.
    Arterioscler Thromb Vasc Biol; 2019 Dec 28; 39(12):2531-2541. PubMed ID: 31619059
    [Abstract] [Full Text] [Related]

  • 32. Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia.
    Dron JS, Wang J, McIntyre AD, Cao H, Robinson JF, Duell PB, Manjoo P, Feng J, Movsesyan I, Malloy MJ, Pullinger CR, Kane JP, Hegele RA.
    J Lipid Res; 2019 Nov 28; 60(11):1953-1958. PubMed ID: 31519763
    [Abstract] [Full Text] [Related]

  • 33. 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 Nov 28; 12(5):1244-1252. PubMed ID: 30037590
    [Abstract] [Full Text] [Related]

  • 34. Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.
    Kim KY, Heo YJ, Ko JM, Lee YA, Shin CH, Ki CS, Lee YJ.
    BMC Endocr Disord; 2024 Apr 15; 24(1):47. PubMed ID: 38622573
    [Abstract] [Full Text] [Related]

  • 35. Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
    Wilson DE, Hata A, Kwong LK, Lingam A, Shuhua J, Ridinger DN, Yeager C, Kaltenborn KC, Iverius PH, Lalouel JM.
    J Clin Invest; 1993 Jul 15; 92(1):203-11. PubMed ID: 8325986
    [Abstract] [Full Text] [Related]

  • 36. Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.
    Chokshi N, Blumenschein SD, Ahmad Z, Garg A.
    J Clin Lipidol; 2014 Jul 15; 8(3):287-95. PubMed ID: 24793350
    [Abstract] [Full Text] [Related]

  • 37. Correlation between chylomicronemia diagnosis scores and post-heparin lipoprotein lipase activity.
    Brisson D, Larouche M, Chebli J, Khoury E, Gaudet D.
    Clin Biochem; 2023 Apr 15; 114():67-72. PubMed ID: 36780934
    [Abstract] [Full Text] [Related]

  • 38. Understanding Hypertriglyceridemia: Integrating Genetic Insights.
    Alves M, Laranjeira F, Correia-da-Silva G.
    Genes (Basel); 2024 Jan 30; 15(2):. PubMed ID: 38397180
    [Abstract] [Full Text] [Related]

  • 39. Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.
    Ain Q, Cevc M, Marusic T, Sikonja J, Sadiq F, Sustar U, Mlinaric M, Kovac J, Batool H, Khan MI, Trebusak Podkrajsek K, Bizjan BJ, Battelino T, Fras Z, Ajmal M, Groselj U.
    Front Endocrinol (Lausanne); 2024 Jan 30; 15():1387419. PubMed ID: 38911039
    [Abstract] [Full Text] [Related]

  • 40. A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis.
    Yu XH, Zhao TQ, Wang L, Liu ZP, Zhang CM, Chen R, Li L, Liu G, Hu WC.
    Biochem Biophys Res Commun; 2006 Mar 03; 341(1):82-7. PubMed ID: 16431216
    [Abstract] [Full Text] [Related]

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