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Journal Abstract Search

126 related items for PubMed ID: 1684505

  • 1. 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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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
    Zhong N, Martiniuk F, Tzall S, Hirschhorn R.
    Am J Hum Genet; 1991 Sep 01; 49(3):635-45. PubMed ID: 1652892
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  • 4. 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 Sep 01; 37(2):115-21. PubMed ID: 8935410
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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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  • 9. Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.
    Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R.
    DNA Cell Biol; 1990 Mar 15; 9(2):85-94. PubMed ID: 2111708
    [Abstract] [Full Text] [Related]

  • 10. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
    Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ.
    Hum Mol Genet; 1994 Dec 15; 3(12):2213-8. PubMed ID: 7881422
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  • 12. 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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  • 14. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
    Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N.
    Am J Hum Genet; 1995 Apr 05; 56(4):887-97. PubMed ID: 7717400
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  • 15. Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
    Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ.
    Biochem Biophys Res Commun; 1991 Sep 16; 179(2):919-26. PubMed ID: 1898413
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  • 18. 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 16; 81(3):203-8. PubMed ID: 14972326
    [Abstract] [Full Text] [Related]

  • 19. Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
    Raben N, Nichols RC, Boerkoel C, Plotz P.
    Muscle Nerve Suppl; 1995 Mar 16; 3():S70-4. PubMed ID: 7603531
    [Abstract] [Full Text] [Related]

  • 20. Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
    Lin CY, Shieh JJ.
    Biochem Biophys Res Commun; 1995 Mar 17; 208(2):886-93. PubMed ID: 7695647
    [Abstract] [Full Text] [Related]

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