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22. A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. Ebara T, Endo Y, Yoshiike S, Tsuji M, Taguchi S, Murase T, Okubo M. Clin Chim Acta; 2007; 386(1-2):100-4. PubMed ID: 17854791 [Abstract] [Full Text] [Related]
23. 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; 92(1):203-11. PubMed ID: 8325986 [Abstract] [Full Text] [Related]
24. Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature. Huang Y, Qin Y, Liao L, Lin F. Clin Chim Acta; 2022 Dec 01; 537():112-117. PubMed ID: 36252692 [Abstract] [Full Text] [Related]
26. 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 01; 241(1):79-86. PubMed ID: 25966443 [Abstract] [Full Text] [Related]
27. A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency. Ikeda Y, Takagi A, Nakata Y, Sera Y, Hyoudou S, Hamamoto K, Nishi Y, Yamamoto A. Clin Chim Acta; 2002 Feb 01; 316(1-2):179-85. PubMed ID: 11750290 [Abstract] [Full Text] [Related]
28. Lipoprotein lipase activity in heterozygotes for lipoprotein lipase gene mutations reveals a gender bias. Murase T, Ebara T, Okubo M. Ann Clin Biochem; 2014 Mar 01; 51(Pt 2):294-7. PubMed ID: 24081181 [Abstract] [Full Text] [Related]
29. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia. Wiebusch H, Funke H, Santer R, Richter W, Assmann G. Hum Mutat; 1996 Mar 01; 8(4):392. PubMed ID: 8956052 [No Abstract] [Full Text] [Related]
31. Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese. Takagi A, Ikeda Y, Tachi K, Shinozuka T, Yamamoto A. Clin Chim Acta; 1999 Jul 01; 285(1-2):143-54. PubMed ID: 10481930 [Abstract] [Full Text] [Related]
32. 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 01; 521():264-271. PubMed ID: 34324844 [Abstract] [Full Text] [Related]
36. Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His). Rouis M, Lohse P, Dugi KA, Lohse P, Beg OU, Ronan R, Talley GD, Brunzell JD, Santamarina-Fojo S. J Lipid Res; 1996 Mar 01; 37(3):651-61. PubMed ID: 8728326 [Abstract] [Full Text] [Related]
38. A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide. Yoshida T, Gotoda T, Okubo M, Iizuka Y, Ishibashi S, Kojima T, Murakami T, Murase T, Yamada N. J Atheroscler Thromb; 2000 Mar 01; 7(1):45-9. PubMed ID: 11425044 [Abstract] [Full Text] [Related]
39. [A gene analysis of familial lipoprotein lipase deficiency in China]. Shen J, Chen R, Hu W, Bingshen KE, Li L, Du Y, Liu Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Aug 01; 16(4):233-5. PubMed ID: 10431049 [Abstract] [Full Text] [Related]
40. Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene. Hölzl B, Huber R, Paulweber B, Patsch JR, Sandhofer F. J Lipid Res; 1994 Dec 01; 35(12):2161-9. PubMed ID: 7897314 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]