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Journal Abstract Search

120 related items for PubMed ID: 9660056

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  • 24. Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
    Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, Lee KC, Chan YW, Martiniuk F.
    Neurology; 2003 Feb 25; 60(4):715-7. PubMed ID: 12601120
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  • 27. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
    Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG.
    Hum Mutat; 2006 Oct 25; 27(10):999-1006. PubMed ID: 16917947
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  • 28. The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis.
    Dennis JA, Moran C, Healy PJ.
    Mamm Genome; 2000 Mar 25; 11(3):206-12. PubMed ID: 10723725
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  • 29. Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
    Huie ML, Anyane-Yeboa K, Guzman E, Hirschhorn R.
    Am J Hum Genet; 2002 Apr 25; 70(4):1054-7. PubMed ID: 11854868
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  • 30. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG.
    Mol Genet Metab; 2004 Mar 25; 81(3):203-8. PubMed ID: 14972326
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  • 31. Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
    Chen CP, Lin SP, Tzen CY, Tsai FJ, Hwu WL, Wang W.
    Prenat Diagn; 2004 Mar 25; 24(3):231-2. PubMed ID: 15057961
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  • 32. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA.
    Gene; 2014 Mar 01; 537(1):41-5. PubMed ID: 24384324
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  • 34. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
    Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT.
    Eur J Hum Genet; 1999 Sep 01; 7(6):713-6. PubMed ID: 10482961
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  • 35. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
    Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2007 Jan 01; 90(1):49-57. PubMed ID: 17095274
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  • 37. Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
    Maimaiti M, Takahashi S, Okajima K, Suzuki N, Ohinata J, Araki A, Tanaka H, Mukai T, Fujieda K.
    J Hum Genet; 2009 Aug 01; 54(8):493-6. PubMed ID: 19609281
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  • 38. Molecular genetics of late onset glycogen storage disease II in Italy.
    Pittis MG, Filocamo M.
    Acta Myol; 2007 Jul 01; 26(1):67-71. PubMed ID: 17915575
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