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Journal Abstract Search

163 related items for PubMed ID: 9554747

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  • 3. 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
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  • 6. Correction/mutation of acid alpha-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies.
    Lu IL, Lin CY, Lin SB, Chen ST, Yeh LY, Yang FY, Au LC.
    Gene Ther; 2003 Oct 17; 10(22):1910-6. PubMed ID: 14502220
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  • 7. 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 Oct 17; 92(1-2):183-7. PubMed ID: 17616415
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  • 8. 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 Oct 17; 2(4):268-73. PubMed ID: 8401535
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  • 9. [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 17; 28(3):261-5. PubMed ID: 21644219
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  • 12. Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
    Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M.
    Hum Hered; 2000 Jun 17; 50(6):331-3. PubMed ID: 10899751
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  • 13. 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 Jun 17; 43(3):311-6. PubMed ID: 23884227
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  • 15. Adeno-associated virus-mediated transfer of human acid maltase gene results in a transient reduction of glycogen accumulation in muscle of Japanese quail with acid maltase deficiency.
    Lin CY, Ho CH, Hsieh YH, Kikuchi T.
    Gene Ther; 2002 May 17; 9(9):554-63. PubMed ID: 11973631
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  • 16. A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
    Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT.
    Eur J Hum Genet; 1997 May 17; 5(5):266-70. PubMed ID: 9412782
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  • 19. 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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  • 20. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
    Walvoort HC, Slee RG, Sluis KJ, Koster JF, Reuser AJ.
    Am J Med Genet; 1984 Nov 09; 19(3):589-98. PubMed ID: 6391168
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