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Journal Abstract Search

197 related items for PubMed ID: 23360637

  • 1. Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II.
    Galehdari H, Emami M, Mohammadian G, Khodadadi A, Azmoon S, Baradaran M.
    Arch Iran Med; 2013 Feb; 16(2):126-8. PubMed ID: 23360637
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  • 2. 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; 92(4):325-35. PubMed ID: 17723315
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  • 3. 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; 23(1):47-56. PubMed ID: 14695532
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  • 5. 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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  • 9. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2012 Nov 09; 107(3):485-9. PubMed ID: 23000108
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  • 14. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
    Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA.
    Neuromuscul Disord; 2007 Jan 09; 17(1):16-22. PubMed ID: 17056254
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  • 16. [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
    Zhang L, Xu XH, Wang J, Zhang SJ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Nov 09; 17(11):1228-31. PubMed ID: 26575883
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  • 18. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):138-41. PubMed ID: 9196050
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  • 19. Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
    Martiniuk F, Chen A, Donnabella V, Arvanitopoulos E, Slonim AE, Raben N, Plotz P, Rom WN.
    Biochem Biophys Res Commun; 2000 Oct 05; 276(3):917-23. PubMed ID: 11027569
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  • 20. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
    Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.
    Muscle Nerve; 2011 May 05; 43(5):665-70. PubMed ID: 21484825
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