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Journal Abstract Search

140 related items for PubMed ID: 7751811

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  • 25. Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.
    vom Dahl S, Harzer K, Rolfs A, Albrecht B, Niederau C, Vogt C, van Weely S, Aerts J, Müller G, Häussinger D.
    J Hepatol; 1999 Oct; 31(4):741-6. PubMed ID: 10551400
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  • 28. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
    Sakai N, Santamarina-Fojo S, Yamashita S, Matsuzawa Y, Brewer HB.
    J Lipid Res; 1996 Oct; 37(10):2065-73. PubMed ID: 8906584
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  • 29. Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
    Du H, Heur M, Duanmu M, Grabowski GA, Hui DY, Witte DP, Mishra J.
    J Lipid Res; 2001 Apr; 42(4):489-500. PubMed ID: 11290820
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  • 30. Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
    Maslen CL, Babcock D, Illingworth DR.
    J Inherit Metab Dis; 1995 Apr; 18(5):620-3. PubMed ID: 8598644
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  • 31. Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.
    Pullinger CR, Stock EO, Movsesyan I, Malloy MJ, Frost PH, Tripuraneni R, Quinn AG, Ishida BY, Schaefer EJ, Asztalos BF, Kane JP.
    J Clin Lipidol; 2015 Apr; 9(5):716-26.e1. PubMed ID: 26350820
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  • 33. Enzyme therapy for lysosomal acid lipase deficiency in the mouse.
    Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski GA.
    Hum Mol Genet; 2001 Aug 01; 10(16):1639-48. PubMed ID: 11487567
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  • 37. Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.
    Civallero G, De Mari J, Bittar C, Burin M, Giugliani R.
    Gene; 2014 Apr 10; 539(1):154-6. PubMed ID: 24508470
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  • 38. [Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].
    Tanaka A.
    Nihon Rinsho; 1995 Dec 10; 53(12):3004-8. PubMed ID: 8577049
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  • 39. Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.
    Ameis D, Greten H.
    Z Gastroenterol; 1996 Jun 10; 34 Suppl 3():66-7. PubMed ID: 8767467
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  • 40. Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
    Sheriff S, Du H, Grabowski GA.
    J Biol Chem; 1995 Nov 17; 270(46):27766-72. PubMed ID: 7499245
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