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Journal Abstract Search

179 related items for PubMed ID: 1652892

  • 1.
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  • 2. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
    Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R.
    DNA Cell Biol; 1991 Nov; 10(9):681-7. PubMed ID: 1684505
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  • 3. 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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  • 4. Identification of the promoter region and gene expression for human acid alpha glucosidase.
    Tzall S, Martiniuk F.
    Biochem Biophys Res Commun; 1991 May 15; 176(3):1509-15. PubMed ID: 1645546
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  • 7. 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 15; 107(3):485-9. PubMed ID: 23000108
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  • 8. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.
    Lin CY, Shieh JJ.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1996 Nov 15; 37(2):115-21. PubMed ID: 8935410
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  • 9. The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
    Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ.
    Biochem J; 1993 Feb 01; 289 ( Pt 3)(Pt 3):687-93. PubMed ID: 8094613
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  • 10. 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 01; 92(4):325-35. PubMed ID: 17723315
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  • 12. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.
    Martiniuk F, Bodkin M, Tzall S, Hirschhorn R.
    Am J Hum Genet; 1990 Sep 01; 47(3):440-5. PubMed ID: 2203258
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  • 13. Late onset form of Pompe disease.
    Mattosova S, Hlavata A, Spalek P, Kotysova L, Macekova D, Chandoga J.
    Bratisl Lek Listy; 2015 Sep 01; 116(8):502-5. PubMed ID: 26350092
    [Abstract] [Full Text] [Related]

  • 14. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.
    Seppälä EH, Reuser AJ, Lohi H.
    PLoS One; 2013 Sep 01; 8(2):e56825. PubMed ID: 23457621
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  • 17. p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.
    Amarinthnukrowh P, Tongkobpetch S, Kongpatanayothin A, Suphapeetiporn K, Shotelersuk V.
    Genet Test Mol Biomarkers; 2010 Dec 01; 14(6):835-7. PubMed ID: 21039225
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  • 18. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Niu DM, Lin HY, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH.
    Hum Genet; 2010 Apr 01; 127(4):465. PubMed ID: 21488291
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  • 19. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Lin HY, Wu JT, Hsu JH, Yu HC, Lin SP, Huang CH, Niu DM.
    Hum Genet; 2010 Apr 01; 127(4):464. PubMed ID: 21488274
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  • 20. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Niu DM, Lin HY, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH.
    Hum Genet; 2010 Apr 01; 127(4):466. PubMed ID: 21488246
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