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Journal Abstract Search

252 related items for PubMed ID: 22227072

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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. 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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  • 11. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
    Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ.
    Hepatology; 2013 Sep 01; 58(3):958-65. PubMed ID: 23424026
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  • 12. 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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  • 13. A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
    Ries S, Aslanidis C, Fehringer P, Carel JC, Gendrel D, Schmitz G.
    J Lipid Res; 1996 Aug 01; 37(8):1761-5. PubMed ID: 8864960
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  • 14. 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 01; 64(2):126-34. PubMed ID: 9705237
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  • 15. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.
    Zhang B, Porto AF.
    J Pediatr Gastroenterol Nutr; 2013 Jun 01; 56(6):682-5. PubMed ID: 23403440
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  • 16. Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
    Bowden KL, Bilbey NJ, Bilawchuk LM, Boadu E, Sidhu R, Ory DS, Du H, Chan T, Francis GA.
    J Biol Chem; 2011 Sep 02; 286(35):30624-30635. PubMed ID: 21757691
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  • 19. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.
    Porto AF.
    Pediatr Endocrinol Rev; 2014 Sep 02; 12 Suppl 1():125-32. PubMed ID: 25345094
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