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Journal Abstract Search

318 related items for PubMed ID: 10562460

  • 1. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
    Anderson RA, Bryson GM, Parks JS.
    Mol Genet Metab; 1999 Nov; 68(3):333-45. PubMed ID: 10562460
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  • 2. Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
    Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA.
    Mol Genet Metab; 1998 Jun; 64(2):126-34. PubMed ID: 9705237
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  • 3. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
    Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G.
    Genomics; 1996 Apr 01; 33(1):85-93. PubMed ID: 8617513
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  • 4. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
    Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P, Vanier MT, Belli DC, Greten H, Schmitz G.
    Hum Mutat; 1998 Apr 01; 12(1):44-51. PubMed ID: 9633819
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  • 5. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
    Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G.
    J Clin Invest; 1993 Dec 01; 92(6):2713-8. PubMed ID: 8254026
    [Abstract] [Full Text] [Related]

  • 6. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
    Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE.
    J Lipid Res; 1998 Jul 01; 39(7):1382-8. PubMed ID: 9684740
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  • 7. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
    Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D.
    J Lipid Res; 1999 Feb 01; 40(2):221-8. PubMed ID: 9925650
    [Abstract] [Full Text] [Related]

  • 8. A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
    Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T.
    Hum Mutat; 1998 Feb 01; 11(4):335-6. PubMed ID: 9554751
    [Abstract] [Full Text] [Related]

  • 9. A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.
    Hooper AJ, Tran HA, Formby MR, Burnett JR.
    Clin Chim Acta; 2008 Dec 01; 398(1-2):152-4. PubMed ID: 18775687
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  • 16. A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).
    Wiebusch H, Muntoni S, Funke H, Lu F, Seedorf U, Oberle S, Schwarzer U, Assmann G.
    Clin Genet; 1996 Aug 01; 50(2):106-7. PubMed ID: 8937772
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  • 18. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
    Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G.
    Hum Genet; 1995 May 01; 95(5):491-4. PubMed ID: 7759067
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  • 19. Structural bases of Wolman disease and cholesteryl ester storage disease.
    Saito S, Ohno K, Suzuki T, Sakuraba H.
    Mol Genet Metab; 2012 Feb 01; 105(2):244-8. PubMed ID: 22138108
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  • 20. Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.
    Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C.
    Pathol Res Pract; 2004 Feb 01; 200(3):231-40. PubMed ID: 15200275
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