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Journal Abstract Search

224 related items for PubMed ID: 15057961

  • 21. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.
    Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT.
    Muscle Nerve; 2003 Jun; 27(6):743-51. PubMed ID: 12766987
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  • 25. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG.
    Mol Genet Metab; 2004 Mar; 81(3):203-8. PubMed ID: 14972326
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  • 26. [Two autopsy cases of adult-type acid maltase deficiency with vacuolation of cerebral arterial walls].
    Matsuoka Y, Hirayama M, Senda Y, Matsui T.
    Rinsho Shinkeigaku; 1985 Jan; 25(1):39-45. PubMed ID: 3922655
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  • 28. Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
    Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT.
    Pediatr Res; 1995 Jul; 38(1):103-6. PubMed ID: 7478785
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  • 29. p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.
    Amarinthnukrowh P, Tongkobpetch S, Kongpatanayothin A, Suphapeetiporn K, Shotelersuk V.
    Genet Test Mol Biomarkers; 2010 Dec; 14(6):835-7. PubMed ID: 21039225
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  • 31. The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
    Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ.
    Biochem J; 1993 Feb 01; 289 ( Pt 3)(Pt 3):687-93. PubMed ID: 8094613
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  • 32. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
    Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ.
    Eur J Hum Genet; 2008 Aug 01; 16(8):875-9. PubMed ID: 18301443
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  • 34. [Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)].
    Ohno K.
    Ryoikibetsu Shokogun Shirizu; 2000 Aug 01; (29 Pt 4):491-2. PubMed ID: 11032005
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  • 35. 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 01; 90(1):49-57. PubMed ID: 17095274
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  • 39. 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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