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Journal Abstract Search

215 related items for PubMed ID: 7033492

  • 21. [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; ; 29(1):46-9. PubMed ID: 10528311
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  • 24. The pattern of involvement of adult-onset acid maltase deficiency at autopsy.
    van der Walt JD, Swash M, Leake J, Cox EL.
    Muscle Nerve; 1987; 10(3):272-81. PubMed ID: 2951596
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  • 26. [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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  • 29. An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.
    Pongratz D, Schlossmacher I, Koppenwallner C, Hübner G.
    Pathol Eur; 1976 Sep 15; 11(1):39-44. PubMed ID: 132627
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  • 32. Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
    Van der Ploeg AT, Kroos MA, Willemsen R, Brons NH, Reuser AJ.
    J Clin Invest; 1991 Feb 15; 87(2):513-8. PubMed ID: 1991835
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  • 33. 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
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  • 37. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-1986. A 29-year-old woman with slowly progressive proximal-muscle weakness.
    N Engl J Med; 1986 Sep 11; 315(11):694-701. PubMed ID: 3092049
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  • 38. 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 11; 38(2):174-8. PubMed ID: 3923581
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  • 40. Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures.
    Meola G, Scarpini E, Manfredi L, Velicogna M, Pellegrini G, Redi CA, Scarlato G.
    Basic Appl Histochem; 1984 Mar 11; 28(3):245-55. PubMed ID: 6440527
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