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Journal Abstract Search

248 related items for PubMed ID: 22241068

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  • 13. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
    Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J.
    Am J Physiol Cell Physiol; 2006 Apr; 290(4):C1076-82. PubMed ID: 16531566
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  • 14. Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.
    Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio-Yamada K, Yoshioka H, Hamanaka R, Yano S, Yokoyama S, Mannen K, Kulkarni AB, Furukawa K, Ishii S.
    J Biochem; 2011 Feb; 149(2):161-70. PubMed ID: 20961863
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  • 16. Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
    Andreotti G, Citro V, De Crescenzo A, Orlando P, Cammisa M, Correra A, Cubellis MV.
    Orphanet J Rare Dis; 2011 Oct 17; 6():66. PubMed ID: 22004918
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  • 19. Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
    Porto C, Pisani A, Rosa M, Acampora E, Avolio V, Tuzzi MR, Visciano B, Gagliardo C, Materazzi S, la Marca G, Andria G, Parenti G.
    J Inherit Metab Dis; 2012 May 17; 35(3):513-20. PubMed ID: 22187137
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  • 20. The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
    Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G.
    Int J Mol Sci; 2016 Dec 01; 17(12):. PubMed ID: 27916943
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