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Journal Abstract Search

179 related items for PubMed ID: 7695647

  • 21. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
    Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ.
    Hum Mol Genet; 1994 Dec; 3(12):2213-8. PubMed ID: 7881422
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  • 22. Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
    Chen CP, Lin SP, Tzen CY, Tsai FJ, Hwu WL, Wang W.
    Prenat Diagn; 2004 Mar; 24(3):231-2. PubMed ID: 15057961
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  • 23. Late-onset Pompe's disease.
    Teener JW.
    Semin Neurol; 2012 Nov; 32(5):506-11. PubMed ID: 23677658
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  • 24. 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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  • 25. 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 01; 63(1):124-9. PubMed ID: 375166
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  • 28. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
    Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R.
    Am J Med Genet; 1999 Jul 02; 85(1):5-8. PubMed ID: 10377006
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  • 29. [Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].
    Willemsen MA, Jira PE, Gabreëls FJ, van der Ploeg AT, Smeitink JA.
    Ned Tijdschr Geneeskd; 1998 Jun 13; 142(24):1388-92. PubMed ID: 9752027
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  • 32. A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
    Kroos MA, Kirschner J, Gellerich FN, Hermans MM, Van Der Ploeg AT, Reuser AJ, Korinthenberg R.
    Neuromuscul Disord; 2004 Jun 13; 14(6):371-4. PubMed ID: 15145338
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  • 34. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
    Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R.
    DNA Cell Biol; 1991 Nov 13; 10(9):681-7. PubMed ID: 1684505
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  • 38. Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
    Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM.
    Clin Genet; 1998 May 13; 53(5):379-82. PubMed ID: 9660056
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  • 39. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
    Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G.
    J Clin Invest; 1993 Dec 13; 92(6):2713-8. PubMed ID: 8254026
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  • 40. [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; 1993 Dec 13; 29(1):46-9. PubMed ID: 10528311
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