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Journal Abstract Search

347 related items for PubMed ID: 15366815

  • 1. 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
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  • 3. [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
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  • 4. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
    Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.
    Mol Ther; 2005 Jan; 11(1):48-56. PubMed ID: 15585405
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  • 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; 27(11-12):1265-7. PubMed ID: 25026126
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  • 7. 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
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  • 8. 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 09; 107(3):485-9. PubMed ID: 23000108
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  • 12. 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 09; 23(1):47-56. PubMed ID: 14695532
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  • 13. [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
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  • 14. 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
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  • 18. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
    Zhang HB, Zhang WM, Qiu JJ, Meng Y, Qiu ZQ.
    Zhonghua Er Ke Za Zhi; 2012 Jun 09; 50(6):415-9. PubMed ID: 22931935
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  • 19. [Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].
    Moreno-Medinilla E, Berzosa-López R, Mora-Ramírez MD, Blasco-Alonso J, Martínez-Antón J.
    Rev Neurol; 2014 Dec 01; 59(11):503-7. PubMed ID: 25418145
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  • 20. CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
    Huang JY, Kan SH, Sandfeld EK, Dalton ND, Rangel AD, Chan Y, Davis-Turak J, Neumann J, Wang RY.
    Sci Rep; 2020 Jun 25; 10(1):10321. PubMed ID: 32587263
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