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Journal Abstract Search

250 related items for PubMed ID: 10737124

  • 41. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Lin HY, Wu TJ, Hsu JH, Yu HC, Chuang CK, Huang CH, Niu DM.
    Hum Genet; 2010 Apr; 127(4):464. PubMed ID: 21488293
    [No Abstract] [Full Text] [Related]

  • 42. 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; 107(3):485-9. PubMed ID: 23000108
    [Abstract] [Full Text] [Related]

  • 43. New GAA mutations in Japanese patients with GSDII (Pompe disease).
    Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K.
    Pediatr Neurol; 2003 Oct; 29(4):284-7. PubMed ID: 14643388
    [Abstract] [Full Text] [Related]

  • 44. 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]

  • 45. 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 Mar 17; 92(1-2):183-7. PubMed ID: 17616415
    [Abstract] [Full Text] [Related]

  • 46. Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence.
    Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T.
    Intern Med; 2011 Mar 17; 50(24):2987-91. PubMed ID: 22185990
    [Abstract] [Full Text] [Related]

  • 47. Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
    Raben N, Nagaraju K, Lee E, Plotz P.
    Neuromuscul Disord; 2000 Jun 17; 10(4-5):283-91. PubMed ID: 10838256
    [Abstract] [Full Text] [Related]

  • 48. 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 17; 127(4):465. PubMed ID: 21488292
    [No Abstract] [Full Text] [Related]

  • 49. 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 17; 127(4):465. PubMed ID: 21488291
    [No Abstract] [Full Text] [Related]

  • 50. 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 17; 127(4):464. PubMed ID: 21488274
    [No Abstract] [Full Text] [Related]

  • 51. 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 17; 127(4):466. PubMed ID: 21488246
    [No Abstract] [Full Text] [Related]

  • 52. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Lin HY, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH, Niu DM.
    Hum Genet; 2010 Apr 17; 127(4):465. PubMed ID: 21488245
    [No Abstract] [Full Text] [Related]

  • 53. Late onset form of Pompe disease.
    Mattosova S, Hlavata A, Spalek P, Kotysova L, Macekova D, Chandoga J.
    Bratisl Lek Listy; 2015 Apr 17; 116(8):502-5. PubMed ID: 26350092
    [Abstract] [Full Text] [Related]

  • 54. 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]

  • 55. c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
    Morales A, Poling MI, Páez MT, Cabrera J, McCormick RJ.
    BMJ Case Rep; 2015 Jul 09; 2015():. PubMed ID: 26160551
    [Abstract] [Full Text] [Related]

  • 56. Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
    Dardis A, Zanin I, Zampieri S, Stuani C, Pianta A, Romanello M, Baralle FE, Bembi B, Buratti E.
    Nucleic Acids Res; 2014 Jan 09; 42(2):1291-302. PubMed ID: 24150945
    [Abstract] [Full Text] [Related]

  • 57. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
    Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P, French Pompe Study Group.
    J Inherit Metab Dis; 2018 Nov 09; 41(6):937-946. PubMed ID: 30155607
    [Abstract] [Full Text] [Related]

  • 58. 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 09; 25(9):719-24. PubMed ID: 26231297
    [Abstract] [Full Text] [Related]

  • 59. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
    Zampieri S, Buratti E, Dominissini S, Montalvo AL, Pittis MG, Bembi B, Dardis A.
    Eur J Hum Genet; 2011 Apr 09; 19(4):422-31. PubMed ID: 21179066
    [Abstract] [Full Text] [Related]

  • 60. 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]

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