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Journal Abstract Search

201 related items for PubMed ID: 16846599

  • 1. Stabilising normal and mis-sense variant alpha-glucosidase.
    Kakavanos R, Hopwood JJ, Lang D, Meikle PJ, Brooks DA.
    FEBS Lett; 2006 Aug 07; 580(18):4365-70. PubMed ID: 16846599
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  • 2. Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
    Martiniuk F, Chen A, Donnabella V, Arvanitopoulos E, Slonim AE, Raben N, Plotz P, Rom WN.
    Biochem Biophys Res Commun; 2000 Oct 05; 276(3):917-23. PubMed ID: 11027569
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  • 3. 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 05; 43(3):374-80. PubMed ID: 9505277
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  • 6. [Treatment of Pompe's disease with recombinant enzymes].
    Van Hove JL.
    Verh K Acad Geneeskd Belg; 1998 Mar 05; 60(4):347-57. PubMed ID: 9883081
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  • 7. 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 05; 11(1):48-56. PubMed ID: 15585405
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  • 9. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
    Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2007 Jan 05; 90(1):49-57. PubMed ID: 17095274
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  • 10. 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 05; 19(3):589-98. PubMed ID: 6391168
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  • 11. 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 Nov 05; 2(4):268-73. PubMed ID: 8401535
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  • 12. 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 Nov 05; 11(3):209-15. PubMed ID: 9521422
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  • 14. [Characterization of alpha-glucosidase in skin fibroblasts in the diagnosis of glycogenosis type 2 (Pompe disease)].
    Braulke T, Sandig KR.
    Kinderarztl Prax; 1984 Aug 05; 52(8):377-82. PubMed ID: 6384623
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  • 15. Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
    Maimaiti M, Takahashi S, Okajima K, Suzuki N, Ohinata J, Araki A, Tanaka H, Mukai T, Fujieda K.
    J Hum Genet; 2009 Aug 05; 54(8):493-6. PubMed ID: 19609281
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  • 19. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
    Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA.
    Neuromuscul Disord; 2007 Jan 05; 17(1):16-22. PubMed ID: 17056254
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