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Journal Abstract Search

352 related items for PubMed ID: 11099402

  • 1.
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  • 2. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
    Haubenwallner S, Hörl G, Shachter NS, Presta E, Fried SK, Höfler G, Kostner GM, Breslow JL, Zechner R.
    Genomics; 1993 Nov; 18(2):392-6. PubMed ID: 8288243
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  • 4. A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
    Takagi A, Ikeda Y, Takeda E, Yamamoto A.
    Biochim Biophys Acta; 2000 Nov 15; 1502(3):433-46. PubMed ID: 11068186
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  • 5. Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.
    Ikeda Y, Takagi A, Nakata Y, Sera Y, Hyoudou S, Hamamoto K, Nishi Y, Yamamoto A.
    J Lipid Res; 2001 Jul 15; 42(7):1072-81. PubMed ID: 11441134
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  • 6. Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia.
    Pasalić D, Jurcić Z, Stipancić G, Ferencak G, Leren TP, Djurovic S, Stavljenić-Rukavina A.
    Clin Chim Acta; 2004 May 15; 343(1-2):179-84. PubMed ID: 15115692
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  • 7. Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations.
    Hooper AJ, Crawford GM, Brisbane JM, Robertson K, Watts GF, van Bockxmeer FM, Burnett JR.
    Ann Clin Biochem; 2008 Jan 15; 45(Pt 1):102-5. PubMed ID: 18275685
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  • 8. Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
    Takagi A, Ikeda Y, Tsutsumi Z, Shoji T, Yamamoto A.
    J Clin Invest; 1992 Feb 15; 89(2):581-91. PubMed ID: 1737848
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  • 9. Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes.
    Yang T, Pang CP, Tsang MW, Lam CW, Poon PM, Chan LY, Wu XQ, Tomlinson B, Baum L.
    Hum Mutat; 2003 Apr 15; 21(4):453. PubMed ID: 12655575
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  • 10. [Molecular genetics and lipoprotein lipase deficiency].
    Foubert L, Benlian P, de Gennes JL.
    Bull Acad Natl Med; 1994 Mar 15; 178(3):405-13. PubMed ID: 8076180
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  • 11. Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.
    Overgaard M, Brasen CL, Svaneby D, Feddersen S, Nybo M.
    Ann Clin Biochem; 2013 Jul 15; 50(Pt 4):374-9. PubMed ID: 23761384
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 316(1-2):179-85. PubMed ID: 11750290
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  • 13. A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.
    Kobayashi J, Sasaki N, Tashiro J, Inadera H, Saito Y, Yoshida S.
    Biochem Biophys Res Commun; 1993 Mar 31; 191(3):1046-54. PubMed ID: 8096693
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  • 14. Insulin sensitivity is impaired in heterozygous carriers of lipoprotein lipase deficiency.
    Hölzl B, Iglseder B, Sandhofer A, Malaimare L, Lang J, Paulweber B, Sandhofer F.
    Diabetologia; 2002 Mar 31; 45(3):378-84. PubMed ID: 11914743
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  • 15. 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]

  • 16. Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.
    Rahalkar AR, Giffen F, Har B, Ho J, Morrison KM, Hill J, Wang J, Hegele RA, Joy T.
    Can J Physiol Pharmacol; 2009 Mar 03; 87(3):151-60. PubMed ID: 19295657
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  • 17. Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family.
    Faustinella F, Chang A, Van Biervliet JP, Rosseneu M, Vinaimont N, Smith LC, Chen SH, Chan L.
    J Biol Chem; 1991 Aug 05; 266(22):14418-24. PubMed ID: 1907278
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  • 18. 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 Aug 05; 10(6):465-73. PubMed ID: 9401010
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