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Journal Abstract Search

121 related items for PubMed ID: 3282727

  • 1. A family with pseudodeficiency of acid alpha-glucosidase.
    Nishimoto J, Inui K, Okada S, Ishigami W, Hirota S, Yamano T, Yabuuchi H.
    Clin Genet; 1988 Apr; 33(4):254-61. PubMed ID: 3282727
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  • 2. A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies.
    Loonen MC, Busch HF, Koster JF, Martin JJ, Niermeijer MF, Schram AW, Brouwer-Kelder B, Mekes W, Slee RG, Tager JM.
    Neurology; 1981 Oct; 31(10):1209-16. PubMed ID: 6810200
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  • 3. Muscular form of glycogenosis type II (Pompe's disease).
    Tanaka K, Shimazu S, Oya N, Tomisawa M, Kusunoki T, Soyama K, Ono E.
    Pediatrics; 1979 Jan; 63(1):124-9. PubMed ID: 375166
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  • 4. Genetic heterogeneity in acid alpha-glucosidase deficiency.
    Beratis NG, LaBadie GU, Hirschhorn K.
    Am J Hum Genet; 1983 Jan; 35(1):21-33. PubMed ID: 6401921
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  • 5. Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
    Hoefsloot LH, van der Ploeg AT, Kroos MA, Hoogeveen-Westerveld M, Oostra BA, Reuser AJ.
    Am J Hum Genet; 1990 Jan; 46(1):45-52. PubMed ID: 2403755
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  • 6. Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.
    Koster JF, Busch HF, Slee RG, Van Weerden TW.
    Clin Chim Acta; 1978 Aug 01; 87(3):451-3. PubMed ID: 28188
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  • 7. 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 01; 107(3):485-9. PubMed ID: 23000108
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  • 11. Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
    Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ.
    Biochem Biophys Res Commun; 1991 Sep 16; 179(2):919-26. PubMed ID: 1898413
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  • 14. Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
    Ausems MG, Kroos MA, Van der Kraan M, Smeitink JA, Kleijer WJ, Ploos van Amstel HK, Reuser AJ.
    Clin Genet; 1996 Jun 16; 49(6):325-8. PubMed ID: 8884087
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  • 15. 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 16; 38(2):174-8. PubMed ID: 3923581
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  • 16. [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 16; 28(3):261-5. PubMed ID: 21644219
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  • 17. 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 16; 38(1):103-6. PubMed ID: 7478785
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  • 18. Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.
    Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T.
    Mol Genet Metab; 2011 May 16; 103(1):12-7. PubMed ID: 21320792
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