These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

214 related items for PubMed ID: 8728326

  • 1. 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; 37(3):651-61. PubMed ID: 8728326
    [Abstract] [Full Text] [Related]

  • 2. Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity.
    Beg OU, Meng MS, Skarlatos SI, Previato L, Brunzell JD, Brewer HB, Fojo SS.
    Proc Natl Acad Sci U S A; 1990 May; 87(9):3474-8. PubMed ID: 2110364
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
    Dichek HL, Fojo SS, Beg OU, Skarlatos SI, Brunzell JD, Cutler GB, Brewer HB.
    J Biol Chem; 1991 Jan 05; 266(1):473-7. PubMed ID: 1702428
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.
    Pingitore P, Lepore SM, Pirazzi C, Mancina RM, Motta BM, Valenti L, Berge KE, Retterstøl K, Leren TP, Wiklund O, Romeo S.
    J Clin Lipidol; 2016 Aug 05; 10(4):816-823. PubMed ID: 27578112
    [Abstract] [Full Text] [Related]

  • 8. Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.
    Emi M, Wilson DE, Iverius PH, Wu L, Hata A, Hegele R, Williams RR, Lalouel JM.
    J Biol Chem; 1990 Apr 05; 265(10):5910-6. PubMed ID: 1969408
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
    Ikeda Y, Goji K, Takagi A.
    Clin Sci (Lond); 2000 Dec 15; 99(6):569-78. PubMed ID: 11099402
    [Abstract] [Full Text] [Related]

  • 11. Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.
    Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ.
    Neth J Med; 1996 Nov 15; 49(5):189-95. PubMed ID: 8973094
    [Abstract] [Full Text] [Related]

  • 12. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.
    Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P.
    Ann Genet; 2001 Nov 15; 44(1):25-32. PubMed ID: 11334614
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 282():45-51. PubMed ID: 30685441
    [Abstract] [Full Text] [Related]

  • 14. A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
    Ishimura-Oka K, Semenkovich CF, Faustinella F, Goldberg IJ, Shachter N, Smith LC, Coleman T, Hide WA, Brown WV, Oka K.
    J Lipid Res; 1992 May 15; 33(5):745-54. PubMed ID: 1619366
    [Abstract] [Full Text] [Related]

  • 15. 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 May 15; 7(1):45-9. PubMed ID: 11425044
    [Abstract] [Full Text] [Related]

  • 16. Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.
    Hoffmann MM, Jacob S, Luft D, Schmülling RM, Rett K, März W, Häring HU, Matthaei S.
    J Clin Endocrinol Metab; 2000 Dec 15; 85(12):4795-8. PubMed ID: 11134145
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 28(2):158-164. PubMed ID: 29288010
    [Abstract] [Full Text] [Related]

  • 18. Reduced dimerization of lipoprotein lipase in post-heparin plasma of a patient with hyperchylomicronemia.
    Masuno H, Nakabayashi H, Kobayashi J, Saito Y, Okuda H.
    Biochim Biophys Acta; 1995 Jan 03; 1254(1):30-6. PubMed ID: 7811743
    [Abstract] [Full Text] [Related]

  • 19. 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 03; 87(4):1165-70. PubMed ID: 2010533
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 11.