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Journal Abstract Search

135 related items for PubMed ID: 7981676

  • 21. 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; 255(6):831-8. PubMed ID: 18458862
    [Abstract] [Full Text] [Related]

  • 22. Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
    Teng YT, Su WJ, Hou JW, Huang SF.
    Chang Gung Med J; 2004 May; 27(5):379-84. PubMed ID: 15366815
    [Abstract] [Full Text] [Related]

  • 23. 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; 54(8):493-6. PubMed ID: 19609281
    [Abstract] [Full Text] [Related]

  • 24. Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
    Ausems MG, ten Berg K, Sandkuijl LA, Kroos MA, Bardoel AF, Roumelioti KN, Reuser AJ, Sinke R, Wijmenga C.
    J Med Genet; 2001 Aug; 38(8):527-9. PubMed ID: 11494962
    [No Abstract] [Full Text] [Related]

  • 25. Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).
    Stroppiano M, Bonuccelli G, Corsolini F, Filocamo M.
    Am J Med Genet; 2001 Jun 01; 101(1):55-8. PubMed ID: 11343339
    [Abstract] [Full Text] [Related]

  • 26. [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
    Qiu JJ, Wei M, Zhang WM, Shi HP.
    Zhonghua Er Ke Za Zhi; 2007 Oct 01; 45(10):760-4. PubMed ID: 18211760
    [Abstract] [Full Text] [Related]

  • 27. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.
    Van der Kraan M, Kroos MA, Joosse M, Bijvoet AG, Verbeet MP, Kleijer WJ, Reuser AJ.
    Biochem Biophys Res Commun; 1994 Sep 30; 203(3):1535-41. PubMed ID: 7945303
    [Abstract] [Full Text] [Related]

  • 28. 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 30; 38(3):450-4. PubMed ID: 7668832
    [Abstract] [Full Text] [Related]

  • 29. Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
    Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM.
    Clin Genet; 1998 May 30; 53(5):379-82. PubMed ID: 9660056
    [Abstract] [Full Text] [Related]

  • 30. Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
    Raben N, Nichols RC, Boerkoel C, Plotz P.
    Muscle Nerve Suppl; 1995 May 30; 3():S70-4. PubMed ID: 7603531
    [Abstract] [Full Text] [Related]

  • 31. Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.
    Hermans MM, van Leenen D, Kroos MA, Reuser AJ.
    Biochem Biophys Res Commun; 1997 Dec 18; 241(2):414-8. PubMed ID: 9425285
    [Abstract] [Full Text] [Related]

  • 32. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
    Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R.
    Am J Med Genet; 1999 Jul 02; 85(1):5-8. PubMed ID: 10377006
    [Abstract] [Full Text] [Related]

  • 33. [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]

  • 34. Helios gene gun particle delivery for therapy of acid maltase deficiency.
    Martiniuk F, Chen A, Mack A, Donnabella V, Slonim A, Bulone L, Arvanitopoulos E, Raben N, Plotz P, Rom WN.
    DNA Cell Biol; 2002 Oct 02; 21(10):717-25. PubMed ID: 12443541
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
    Hermans MM, Kroos MA, de Graaff E, Oostra BA, Reuser AJ.
    Hum Mutat; 1993 Apr 02; 2(4):268-73. PubMed ID: 8401535
    [Abstract] [Full Text] [Related]

  • 37. A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).
    Aryani O, Manshadi MD, Tondar M, Khalili E, Kamalidehghan B, Ahmadipour F, Fani S, Houshmand M.
    Mol Biol Rep; 2014 Sep 02; 41(9):6211-4. PubMed ID: 24976573
    [Abstract] [Full Text] [Related]

  • 38. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
    Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG.
    Neurology; 2005 Jan 25; 64(2):368-70. PubMed ID: 15668445
    [Abstract] [Full Text] [Related]

  • 39. 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 25; 12(2):159-66. PubMed ID: 11738358
    [Abstract] [Full Text] [Related]

  • 40. 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]

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