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Journal Abstract Search

290 related items for PubMed ID: 23884227

  • 1. Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
    Park HD, Lee DH, Choi TY, Lee YK, Lee SY, Kim JW, Ki CS, Lee YW.
    Ann Clin Lab Sci; 2013; 43(3):311-6. PubMed ID: 23884227
    [Abstract] [Full Text] [Related]

  • 2. Two new missense mutations of GAA in late onset glycogen storage disease type II.
    Park YE, Park KH, Lee CH, Kim CM, Kim DS.
    J Neurol Sci; 2006 Dec 21; 251(1-2):113-7. PubMed ID: 17092519
    [Abstract] [Full Text] [Related]

  • 3. [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].
    Zeng MH, Qiu WJ, Gu XF, Wang Y, Zhou JD, Ye J, Han LS, Zhang HW.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun 21; 28(3):261-5. PubMed ID: 21644219
    [Abstract] [Full Text] [Related]

  • 4. 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]

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

  • 6. Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.
    Aykut A, Onay H, Kose M, Erbas Canda E, Karaca E, Coker M, Ozkinay F.
    J Pediatr Endocrinol Metab; 2014 Nov 01; 27(11-12):1265-7. PubMed ID: 25026126
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
    Zhang L, Xu XH, Wang J, Zhang SJ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Nov 09; 17(11):1228-31. PubMed ID: 26575883
    [Abstract] [Full Text] [Related]

  • 9. Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.
    Xu F, Ding E, Migone F, Serra D, Schneider A, Chen YT, Amalfitano A.
    J Gene Med; 2005 Feb 09; 7(2):171-8. PubMed ID: 15515143
    [Abstract] [Full Text] [Related]

  • 10. [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]

  • 11. 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]

  • 12. [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].
    Luo JH, Qiu WJ, Fang D, Ye J, Han LS, Zhang HW, Yu YG, Liang LL, Gu XF.
    Zhonghua Er Ke Za Zhi; 2017 Jun 02; 55(6):423-427. PubMed ID: 28592009
    [Abstract] [Full Text] [Related]

  • 13. [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 02; 45(10):760-4. PubMed ID: 18211760
    [Abstract] [Full Text] [Related]

  • 14. Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
    Sun B, Zhang H, Franco LM, Young SP, Schneider A, Bird A, Amalfitano A, Chen YT, Koeberl DD.
    Mol Ther; 2005 Jan 02; 11(1):57-65. PubMed ID: 15585406
    [Abstract] [Full Text] [Related]

  • 15. Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
    Er TK, Chen CC, Chien YH, Liang WC, Kan TM, Jong YJ.
    Clin Chim Acta; 2014 Feb 15; 429():18-25. PubMed ID: 24444888
    [Abstract] [Full Text] [Related]

  • 16. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
    Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ.
    Hum Mutat; 2004 Jan 15; 23(1):47-56. PubMed ID: 14695532
    [Abstract] [Full Text] [Related]

  • 17. 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 Jan 15; 92(1-2):183-7. PubMed ID: 17616415
    [Abstract] [Full Text] [Related]

  • 18. Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.
    Shieh JJ, Lin CY.
    Hum Mutat; 1998 Jan 15; 11(4):306-12. PubMed ID: 9554747
    [Abstract] [Full Text] [Related]

  • 19. Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.
    Xu F, Ding E, Liao SX, Migone F, Dai J, Schneider A, Serra D, Chen YT, Amalfitano A.
    Gene Ther; 2004 Nov 15; 11(21):1590-8. PubMed ID: 15356673
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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