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Journal Abstract Search

192 related items for PubMed ID: 3895931

  • 1. The "muscular variant" of Pompe disease: clinical, biochemical and histologic characteristics.
    Temple JK, Dunn DW, Blitzer MG, Shapira E.
    Am J Med Genet; 1985 Jul; 21(3):597-604. PubMed ID: 3895931
    [Abstract] [Full Text] [Related]

  • 2. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
    Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F.
    Am J Med Genet; 1997 Oct 17; 72(2):135-42. PubMed ID: 9382133
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  • 3. [Characterization of alpha-glucosidase in skin fibroblasts in the diagnosis of glycogenosis type 2 (Pompe disease)].
    Braulke T, Sandig KR.
    Kinderarztl Prax; 1984 Aug 17; 52(8):377-82. PubMed ID: 6384623
    [No Abstract] [Full Text] [Related]

  • 4. 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 17; 107(3):485-9. PubMed ID: 23000108
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  • 5. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
    Umapathysivam K, Hopwood JJ, Meikle PJ.
    Clin Chim Acta; 2005 Nov 17; 361(1-2):191-8. PubMed ID: 15993875
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  • 6. Comparative investigation of alpha-glucosidase activity in leucocytes and skeletal muscle of patients with Morbus Pompe.
    Didt L, Winkler M, Bührdel P, Bormann M, Böhme HJ, Hofmann E.
    Z Med Lab Diagn; 1988 Nov 17; 29(1):7-11. PubMed ID: 3129881
    [No Abstract] [Full Text] [Related]

  • 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 17; 11(1):48-56. PubMed ID: 15585405
    [Abstract] [Full Text] [Related]

  • 8. [A retrospective study of six patients with late-onset Pompe disease].
    Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P.
    Rev Neurol (Paris); 2008 Apr 17; 164(4):336-42. PubMed ID: 18439925
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  • 9. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
    Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Görlinger K, Wallot M, Richards S, Voit T.
    Neuromuscul Disord; 2005 Jan 17; 15(1):24-31. PubMed ID: 15639117
    [Abstract] [Full Text] [Related]

  • 10. Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
    Pauly DF, Johns DC, Matelis LA, Lawrence JH, Byrne BJ, Kessler PD.
    Gene Ther; 1998 Apr 17; 5(4):473-80. PubMed ID: 9614571
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  • 14. Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II.
    Walvoort HC, Koster JF, Reuser AJ.
    Res Vet Sci; 1985 Mar 17; 38(2):174-8. PubMed ID: 3923581
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  • 15. Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
    Ullrich K, Gröbe H, Korinthenberg R, von Bassewitz DB.
    Pathol Res Pract; 1986 Oct 17; 181(5):627-32. PubMed ID: 2947052
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  • 16. [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].
    Castro-Gago M, Eirís-Puñal J, Rodríguez-Núñez A, Pintos-Martínez E, Benlloch-Marín T, Barros-Angueira F.
    Rev Neurol; 1986 Oct 17; 29(1):46-9. PubMed ID: 10528311
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  • 18. 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 17; 16(8):875-9. PubMed ID: 18301443
    [Abstract] [Full Text] [Related]

  • 19. [Late infantile form of Pompe's disease. Deficiency of alpha-1,4-glucosidase (acid maltase)].
    Colomer J, Roig M, Campistol J, Rullan G, Fernández-Alvarez E.
    An Esp Pediatr; 1984 Sep 15; 21(3):250-9. PubMed ID: 6391315
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  • 20. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
    Kikuchi T, Yang HW, Pennybacker M, Ichihara N, Mizutani M, Van Hove JL, Chen YT.
    J Clin Invest; 1998 Feb 15; 101(4):827-33. PubMed ID: 9466978
    [Abstract] [Full Text] [Related]

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