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Journal Abstract Search

122 related items for PubMed ID: 8790727

  • 21. The familial hyperchylomicronaemia syndrome.
    Bijvoet SM, Bruin T, Kastelein JJ.
    Neth J Med; 1993 Feb; 42(1-2):36-44. PubMed ID: 8446222
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  • 22. 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
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  • 23. [Structural characteristics of the human lipoprotein lipase gene].
    Etienne J, Chuat JC, Raisonnier A, Galibert F.
    Bull Acad Natl Med; 1991 Feb; 175(2):313-8; discussion 318-20. PubMed ID: 1863870
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  • 24. A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
    Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M.
    Hum Mutat; 1997 Feb; 10(3):179-85. PubMed ID: 9298816
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  • 25. 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; 35(9):1552-60. PubMed ID: 7806969
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  • 26. Adipose tissue fatty acid composition in humans with lipoprotein lipase deficiency.
    Ullrich NF, Purnell JQ, Brunzell JD.
    J Investig Med; 2001 May; 49(3):273-5. PubMed ID: 11352185
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  • 29. Lipoprotein lipase deficiency in an infant.
    Nampoothiri S, Radhakrishnan N, Schwentek A, Hoffmann MM.
    Indian Pediatr; 2011 Oct; 48(10):805-6. PubMed ID: 22080683
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  • 31. Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice.
    Nierman MC, Rip J, Twisk J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA.
    Neth J Med; 2005 Jan; 63(1):14-9. PubMed ID: 15719847
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  • 32. Deciphering the role of V200A and N291S mutations leading to LPL deficiency.
    Botta M, Maurer E, Ruscica M, Romeo S, Stulnig TM, Pingitore P.
    Atherosclerosis; 2019 Mar; 282():45-51. PubMed ID: 30685441
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  • 35. Molecular pathobiology of the human lipoprotein lipase gene.
    Murthy V, Julien P, Gagne C.
    Pharmacol Ther; 1996 Mar; 70(2):101-35. PubMed ID: 8843465
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  • 37. 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; 50(6):1275-80. PubMed ID: 1598907
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  • 38. Extreme diabetic lipaemia associated with a novel lipoprotein lipase gene mutation.
    McLean AG, Petersons CJ, Hooper AJ, Burnett JR, Burt MG, Doogue MP.
    Clin Chim Acta; 2009 Aug; 406(1-2):167-9. PubMed ID: 19447100
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  • 39. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
    Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF.
    Clin Chim Acta; 2006 Feb; 364(1-2):256-9. PubMed ID: 16153625
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