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Journal Abstract Search

165 related items for PubMed ID: 7881425

  • 21. Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.
    Aung-Htut MT, Ham KA, Tchan M, Johnsen R, Schnell FJ, Fletcher S, Wilton SD.
    Sci Rep; 2020 Apr 21; 10(1):6702. PubMed ID: 32317649
    [Abstract] [Full Text] [Related]

  • 22. Developing Therapeutic Splice-Correcting Antisense Oligomers for Adult-Onset Pompe Disease with c.-32-13T>G Mutation.
    Ham KA, Johnsen RD, Tchan M, Wilton SD, Aung-Htut MT.
    Methods Mol Biol; 2023 Apr 21; 2587():239-251. PubMed ID: 36401034
    [Abstract] [Full Text] [Related]

  • 23. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
    Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, Teijeira S, Anyane-Yeboa K, Hirschhorn R.
    Neuromuscul Disord; 2002 Feb 21; 12(2):159-66. PubMed ID: 11738358
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
    Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ.
    J Neurol; 2008 Jun 01; 255(6):831-8. PubMed ID: 18458862
    [Abstract] [Full Text] [Related]

  • 26. Genotype-phenotype correlation in adult-onset acid maltase deficiency.
    Wokke JH, Ausems MG, van den Boogaard MJ, Ippel EF, van Diggelene O, Kroos MA, Boer M, Jennekens FG, Reuser AJ, Ploos van Amstel HK.
    Ann Neurol; 1995 Sep 01; 38(3):450-4. PubMed ID: 7668832
    [Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
    Beesley CE, Child AH, Yacoub MH.
    Hum Mutat; 1998 Jan 09; 11(5):413. PubMed ID: 10206684
    [Abstract] [Full Text] [Related]

  • 29. [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
    Liu Q, Zhao J, Wang ZX, Zhang W, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2013 Jul 02; 93(25):1981-5. PubMed ID: 24169249
    [Abstract] [Full Text] [Related]

  • 30. Late-onset GSDII with novel GAA gene mutation.
    Angelini C, Nascimbeni AC.
    Clin Genet; 2007 Apr 02; 71(4):374-5. PubMed ID: 17470141
    [No Abstract] [Full Text] [Related]

  • 31. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
    Laforêt P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, Fardeau M.
    Neurology; 2000 Oct 24; 55(8):1122-8. PubMed ID: 11071489
    [Abstract] [Full Text] [Related]

  • 32. Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
    Pittis MG, Montalvo AL, Miocic S, Martini C, Deganuto M, Candusso M, Ciana G, Bembi B.
    Am J Med Genet A; 2003 Sep 01; 121A(3):225-30. PubMed ID: 12923862
    [Abstract] [Full Text] [Related]

  • 33. A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).
    Raben N, Nichols RC, Martiniuk F, Plotz PH.
    Hum Mol Genet; 1996 Jul 01; 5(7):995-1000. PubMed ID: 8817337
    [Abstract] [Full Text] [Related]

  • 34. Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
    Joshi PR, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer M.
    J Inherit Metab Dis; 2008 Dec 01; 31 Suppl 2():S261-5. PubMed ID: 18607768
    [Abstract] [Full Text] [Related]

  • 35. Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
    Gort L, Coll MJ, Chabás A.
    Mol Genet Metab; 2007 Dec 01; 92(1-2):183-7. PubMed ID: 17616415
    [Abstract] [Full Text] [Related]

  • 36. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
    Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B.
    Neuromuscul Disord; 2015 Sep 01; 25(9):719-24. PubMed ID: 26231297
    [Abstract] [Full Text] [Related]

  • 37. Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
    Bobillo Lobato J, Sánchez Peral BA, Durán Parejo P, Jiménez Jiménez LM.
    Clin Chim Acta; 2013 Mar 15; 418():107-8. PubMed ID: 23305799
    [Abstract] [Full Text] [Related]

  • 38. Delayed or late-onset type II glycogenosis with globular inclusions.
    Sharma MC, Schultze C, von Moers A, Stoltenburg-Didinger G, Shin YS, Podskarbi T, Isenhardt K, Tews DS, Goebel HH.
    Acta Neuropathol; 2005 Aug 15; 110(2):151-7. PubMed ID: 15986226
    [Abstract] [Full Text] [Related]

  • 39. 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 15; 7(6):713-6. PubMed ID: 10482961
    [Abstract] [Full Text] [Related]

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