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Journal Abstract Search

187 related items for PubMed ID: 11908140

  • 1. [Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene].
    Causeret AS, Souillet AL, Marcais C, Prunetta V, Lachaux A, Faure M, Claudy A.
    Ann Dermatol Venereol; 2001 Dec; 128(12):1343-5. PubMed ID: 11908140
    [Abstract] [Full Text] [Related]

  • 2. [Primary hyperchylomicronemia].
    Yamashita S.
    Nihon Rinsho; 2013 Sep; 71(9):1578-83. PubMed ID: 24205717
    [Abstract] [Full Text] [Related]

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

  • 4. Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.
    Marçais C, Verges B, Charrière S, Pruneta V, Merlin M, Billon S, Perrot L, Drai J, Sassolas A, Pennacchio LA, Fruchart-Najib J, Fruchart JC, Durlach V, Moulin P.
    J Clin Invest; 2005 Oct; 115(10):2862-9. PubMed ID: 16200213
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 05; 50(Pt 4):374-9. PubMed ID: 23761384
    [Abstract] [Full Text] [Related]

  • 7. 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 Jul 05; 44(1):25-32. PubMed ID: 11334614
    [Abstract] [Full Text] [Related]

  • 8. Human lipoprotein lipase deficiency: does chronic dyslipidemia lead to increased oxidative stress and mitochondrial DNA damage in blood cells?
    Ven Murthy MR, Julien P, Singh P, Levy E.
    Acta Biochim Pol; 1996 Jul 05; 43(1):227-40. PubMed ID: 8790727
    [Abstract] [Full Text] [Related]

  • 9. Lipoprotein abnormalities in compound heterozygous lipoprotein lipase deficiency after treatment with a low-fat diet and orlistat.
    Blackett P, Tryggestad J, Krishnan S, Li S, Xu W, Alaupovic P, Quiroga C, Copeland K.
    J Clin Lipidol; 2013 Jul 05; 7(2):132-9. PubMed ID: 23415432
    [Abstract] [Full Text] [Related]

  • 10. Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.
    Kawashiri MA, Higashikata T, Mizuno M, Takata M, Katsuda S, Miwa K, Nozue T, Nohara A, Inazu A, Kobayashi J, Koizumi J, Mabuchi H.
    J Clin Endocrinol Metab; 2005 Dec 05; 90(12):6541-4. PubMed ID: 16174715
    [Abstract] [Full Text] [Related]

  • 11. 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 Dec 05; 7(1):45-9. PubMed ID: 11425044
    [Abstract] [Full Text] [Related]

  • 12. 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 Dec 05; 10(6):465-73. PubMed ID: 9401010
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  • 15. 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 05; 50(6):1275-80. PubMed ID: 1598907
    [Abstract] [Full Text] [Related]

  • 16. [Mutagenic aspects of the lipoprotein lipase gene].
    Petrescu-Dănilă E, Voicu PM, Ionescu CR.
    Rev Med Chir Soc Med Nat Iasi; 2006 Jun 05; 110(1):173-7. PubMed ID: 19292100
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  • 18. 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 05; 35(12):2161-9. PubMed ID: 7897314
    [Abstract] [Full Text] [Related]

  • 19. Familial chylomicronemia syndrome.
    Sugandhan S, Khandpur S, Sharma VK.
    Pediatr Dermatol; 2007 Dec 05; 24(3):323-5. PubMed ID: 17542893
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