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161 related items for PubMed ID: 9852258
21. 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; 35(12):2161-9. PubMed ID: 7897314 [Abstract] [Full Text] [Related]
22. Lipoprotein lipase in the kidney: activity varies widely among animal species. Ruge T, Neuger L, Sukonina V, Wu G, Barath S, Gupta J, Frankel B, Christophersen B, Nordstoga K, Olivecrona T, Olivecrona G. Am J Physiol Renal Physiol; 2004 Dec; 287(6):F1131-9. PubMed ID: 15292043 [Abstract] [Full Text] [Related]
23. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC. J Clin Invest; 1991 Apr; 87(4):1165-70. PubMed ID: 2010533 [Abstract] [Full Text] [Related]
24. Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation. Kozaki K, Gotoda T, Kawamura M, Shimano H, Yazaki Y, Ouchi Y, Orimo H, Yamada N. J Lipid Res; 1993 Oct; 34(10):1765-72. PubMed ID: 8245726 [Abstract] [Full Text] [Related]
25. Hyperlipoproteinemia type I in a patient with active lipoprotein lipase in adipose tissue and indications of defective transport of the enzyme. Fager G, Semb H, Enerbäck S, Olivecrona T, Jonasson L, Bengtsson-Olivecrona G, Camejo G, Bjursell G, Bondjers G. J Lipid Res; 1990 Jul; 31(7):1187-97. PubMed ID: 2205700 [Abstract] [Full Text] [Related]
27. Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. Mailly F, Palmen J, Muller DP, Gibbs T, Lloyd J, Brunzell J, Durrington P, Mitropoulos K, Betteridge J, Watts G, Lithell H, Angelico F, Humphries SE, Talmud PJ. Hum Mutat; 1997 Jun; 10(6):465-73. PubMed ID: 9401010 [Abstract] [Full Text] [Related]
28. A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia. Ma Y, Liu MS, Zhang H, Forsythe IJ, Brunzell JD, Hayden MR. Hum Mol Genet; 1993 Jul; 2(7):1049-50. PubMed ID: 8364543 [No Abstract] [Full Text] [Related]
29. Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients. Okubo M, Inoue S, Horinishi A, Ogihara T, Kaneko K, Gotoda T, Yamada N, Murase T. Atherosclerosis; 1999 Jun; 144(2):443-7. PubMed ID: 10407506 [No Abstract] [Full Text] [Related]
31. 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; 28(2):158-164. PubMed ID: 29288010 [Abstract] [Full Text] [Related]
34. Combined lipase deficiency (cld/cld) in mice. Demonstration that an inactive form of lipoprotein lipase is synthesized. Olivecrona T, Chernick SS, Bengtsson-Olivecrona G, Paterniti JR, Brown WV, Scow RO. J Biol Chem; 1985 Feb 25; 260(4):2552-7. PubMed ID: 3972797 [Abstract] [Full Text] [Related]
35. Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels. Paglialunga S, Julien P, Tahiri Y, Cadelis F, Bergeron J, Gaudet D, Cianflone K. J Lipid Res; 2009 Jun 25; 50(6):1109-19. PubMed ID: 19237736 [Abstract] [Full Text] [Related]
36. A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia. Previato L, Guardamagna O, Dugi KA, Ronan R, Talley GD, Santamarina-Fojo S, Brewer HB. J Lipid Res; 1994 Sep 25; 35(9):1552-60. PubMed ID: 7806969 [Abstract] [Full Text] [Related]
37. An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. Berger GM. Am J Clin Pathol; 1987 Sep 25; 88(3):369-73. PubMed ID: 3630977 [Abstract] [Full Text] [Related]
38. 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 25; 316(1-2):179-85. PubMed ID: 11750290 [Abstract] [Full Text] [Related]
39. Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency. Henderson HE, Devlin R, Peterson J, Brunzell JD, Hayden MR. Mol Biol Med; 1990 Dec 25; 7(6):511-7. PubMed ID: 2077351 [Abstract] [Full Text] [Related]
40. A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. Ishimura-Oka K, Faustinella F, Kihara S, Smith LC, Oka K, Chan L. Am J Hum Genet; 1992 Jun 25; 50(6):1275-80. PubMed ID: 1598907 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]