[1] Falko JM.Familial chylomicronemia syndrome: A clinical guide for endocrinologists[J].Endocr Pract,2018,24(8):756-763.
[2] Moon JH, Kim K, Choi SH. Lipoprotein lipase:Is it a magic target for the treatment of hypertriglyceridemia[J].Endocrinol Metab(Seoul), 2022,37(4):575-586.
[3] Kuthiroly S,Yesodharan D,Radhakrishnan N,et al.Lipoprotein lipase deficiency[J].Indian J Pediatr,2021,88(2):147-153.
[4] Schreibman PH, Arons DL, Saudek CD,et al.Abnormal lipoprotein lipase in familial exogenous hypertriglyceridemia[J].J Clin Invest, 1973,52(8):2074-2082.
[5] Gagné C,Brun LD,Julien P,et al.Primary lipoprotein-lipase-activity deficiency:Clinical investigation of a French Canadian population[J].CMAJ,1989,140(4):405-411.
[6] WuYQ,Hu YY,Li GN.Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase(LPL) deficiency in two cases[J]. BMC Pediatr,2021,21(1):414.
[7] Yang AL, McNabb-Baltar J.Hypertriglyceridemia and acute pancreatitis[J].Pancreatology,2020,20(5):795-800.
[8] Gouni-Berthold I,Schwarz J,Berthold HK.Updates in drug treatment of severe hypertriglyceridemia[J].Curr Atheroscler Rep,2023, 25(10):701-709.
[9] Xia Y, Zheng W, Du T, et al. Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency[J].J Clin Lipidol,2023,17(6):808-817.
[10] Aljouda L,Nagy L,Schulze A.Long-term treatment of lipoprotein lipase deficiency with medium-chain triglyceride-enriched diet: A case series[J].Nutrients,2023,15(16):3535.
[11] Davidson M,Stevenson M,Hsieh A,et al.The burden of familial chylomicronemia syndrome:Results from the global IN-FOCUS study[J].J Clin Lipidol,2018,12(4):898-907.e2.
[12] Witztum JL,Gaudet D,Freedman SD,et al.Volanesorsen and triglyceride levels in familial chylomicronemia syndrome[J].N Engl J Med,2019,381(6):531-542.
[13] Watts GF,Rosenson RS,Hegele RA,et al.Plozasiran for managing persisetent chylomicronemia and pancreatitis risk[J].N Engl J Med,2025,392(2):127-137.
[14] Ng DS. Evolving ANGPTL-based lipid-lowering strategies and beyond[J].Curr Opin Lipidol,2021,2(4):271-272.
[15] Dewey FE,Gusarova V,Dunbar RL,et al.Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease[J].N Engl J Med, 2017,377(3):211-221.
[16] Rosenson RS, Gaudet D, Ballantyne CM, et al.Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations:A phase 2 randomized trial[J].Nat Med,2023,29(3):729-737.
[17] Gaudet D, Karwatowska-Prokopczuk E, Baum SJ,et al.Vupanorsen, an N-acetyl galactosamine-conjugated antisense drug to ANGPTL3 mRNA, lowers triglycerides and atherogenic lipoproteins in patients with diabetes, hepatic steatosis, and hypertriglyceridaemia[J].Eur Heart J,2020,41(40):3936-3945.
[18] Watanabe N,Yano K,Tsuyuki K,et al.Re-examination of regulatory opinions in Europe:Possible contribution for the approval of the first gene therapy product Glybera[J].Mol Ther Methods Clin Dev,2015, 2:14066. |
