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179 related items for PubMed ID: 12443541

  • 21. [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; 45(10):760-4. PubMed ID: 18211760
    [Abstract] [Full Text] [Related]

  • 22. 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; 11(21):1590-8. PubMed ID: 15356673
    [Abstract] [Full Text] [Related]

  • 23. 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; 92(4):325-35. PubMed ID: 17723315
    [Abstract] [Full Text] [Related]

  • 24. Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease.
    Douillard-Guilloux G, Richard E, Batista L, Caillaud C.
    J Gene Med; 2009 Apr; 11(4):279-87. PubMed ID: 19263466
    [Abstract] [Full Text] [Related]

  • 25. Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.
    Martin-Touaux E, Puech JP, Château D, Emiliani C, Kremer EJ, Raben N, Tancini B, Orlacchio A, Kahn A, Poenaru L.
    Hum Mol Genet; 2002 Jul 01; 11(14):1637-45. PubMed ID: 12075008
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Correction of glycogenosis type 2 by muscle-specific lentiviral vector.
    Richard E, Douillard-Guilloux G, Batista L, Caillaud C.
    In Vitro Cell Dev Biol Anim; 2008 Jun 09; 44(10):397-406. PubMed ID: 18810562
    [Abstract] [Full Text] [Related]

  • 28. Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
    Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E.
    Hum Mol Genet; 2010 Feb 15; 19(4):684-96. PubMed ID: 19959526
    [Abstract] [Full Text] [Related]

  • 29. Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction.
    Kyosen SO, Iizuka S, Kobayashi H, Kimura T, Fukuda T, Shen J, Shimada Y, Ida H, Eto Y, Ohashi T.
    Gene Ther; 2010 Apr 15; 17(4):521-30. PubMed ID: 20033064
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. Production of a functional human acid maltase in tobacco seeds: biochemical analysis, uptake by human GSDII cells, and in vivo studies in GAA knockout mice.
    Martiniuk F, Reggi S, Tchou-Wong KM, Rom WN, Busconi M, Fogher C.
    Appl Biochem Biotechnol; 2013 Oct 15; 171(4):916-26. PubMed ID: 23907679
    [Abstract] [Full Text] [Related]

  • 32. Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
    Rucker M, Fraites TJ, Porvasnik SL, Lewis MA, Zolotukhin I, Cloutier DA, Byrne BJ.
    Development; 2004 Jun 15; 131(12):3007-19. PubMed ID: 15169761
    [Abstract] [Full Text] [Related]

  • 33. Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
    Yang HW, Kikuchi T, Hagiwara Y, Mizutani M, Chen YT, Van Hove JL.
    Pediatr Res; 1998 Mar 15; 43(3):374-80. PubMed ID: 9505277
    [Abstract] [Full Text] [Related]

  • 34. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
    Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ.
    Hum Mutat; 1998 Mar 15; 11(3):209-15. PubMed ID: 9521422
    [Abstract] [Full Text] [Related]

  • 35. Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
    Fuller M, Van der Ploeg A, Reuser AJ, Anson DS, Hopwood JJ.
    Eur J Biochem; 1995 Dec 15; 234(3):903-9. PubMed ID: 8575451
    [Abstract] [Full Text] [Related]

  • 36. The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs.
    Higuchi T, Kawagoe S, Otsu M, Shimada Y, Kobayashi H, Hirayama R, Eto K, Ida H, Ohashi T, Nakauchi H, Eto Y.
    Mol Genet Metab; 2014 May 15; 112(1):44-8. PubMed ID: 24642446
    [Abstract] [Full Text] [Related]

  • 37. Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency.
    Tsujino S, Kinoshita N, Tashiro T, Ikeda K, Ichihara N, Kikuchi H, Hagiwara Y, Mizutani M, Kikuchi T, Sakuragawa N.
    Hum Gene Ther; 1998 Jul 20; 9(11):1609-16. PubMed ID: 9694159
    [Abstract] [Full Text] [Related]

  • 38. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.
    Amalfitano A, McVie-Wylie AJ, Hu H, Dawson TL, Raben N, Plotz P, Chen YT.
    Proc Natl Acad Sci U S A; 1999 Aug 03; 96(16):8861-6. PubMed ID: 10430861
    [Abstract] [Full Text] [Related]

  • 39. Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.
    Keeler AM, Zieger M, Todeasa SH, McCall AL, Gifford JC, Birsak S, Choudhury SR, Byrne BJ, Sena-Esteves M, ElMallah MK.
    Hum Gene Ther; 2019 Jan 03; 30(1):57-68. PubMed ID: 29901418
    [Abstract] [Full Text] [Related]

  • 40. 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
    [Abstract] [Full Text] [Related]

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