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Journal Abstract Search

824 related items for PubMed ID: 23000108

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  • 2. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.
    Neurology; 2007 Jan 09; 68(2):110-5. PubMed ID: 17210890
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  • 3. The genotype-phenotype correlation in Pompe disease.
    Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):59-68. PubMed ID: 22253258
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  • 6. Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease.
    Nishiyama Y, Shimada Y, Yokoi T, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T.
    Mol Genet Metab; 2012 Nov 15; 107(3):490-5. PubMed ID: 23041259
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  • 8. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.
    Mol Genet Metab; 2007 Dec 15; 92(4):325-35. PubMed ID: 17723315
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  • 9. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
    Umapathysivam K, Hopwood JJ, Meikle PJ.
    Clin Chim Acta; 2005 Nov 15; 361(1-2):191-8. PubMed ID: 15993875
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  • 13. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
    Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ.
    Eur J Hum Genet; 2008 Aug 15; 16(8):875-9. PubMed ID: 18301443
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  • 14. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
    Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ.
    Hum Mutat; 2004 Jan 15; 23(1):47-56. PubMed ID: 14695532
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  • 17. Novel GAA mutations in patients with Pompe disease.
    Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB.
    Gene; 2015 Apr 25; 561(1):124-31. PubMed ID: 25681614
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  • 20. Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
    Shimada Y, Kobayashi H, Kawagoe S, Aoki K, Kaneshiro E, Shimizu H, Eto Y, Ida H, Ohashi T.
    Mol Genet Metab; 2011 Dec 25; 104(4):566-73. PubMed ID: 21982629
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