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Journal Abstract Search

250 related items for PubMed ID: 10737124

  • 1. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
    Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW.
    Neurogenetics; 1998 Mar; 1(3):205-11. PubMed ID: 10737124
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  • 2. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
    Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R.
    Hum Mol Genet; 1994 Dec; 3(12):2231-6. PubMed ID: 7881425
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  • 3. 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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  • 5. Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).
    Stroppiano M, Bonuccelli G, Corsolini F, Filocamo M.
    Am J Med Genet; 2001 Jun 01; 101(1):55-8. PubMed ID: 11343339
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  • 6. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
    Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R.
    Biochem Biophys Res Commun; 1998 Mar 27; 244(3):921-7. PubMed ID: 9535769
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  • 7. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):138-41. PubMed ID: 9196050
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  • 9. Late-onset GSDII with novel GAA gene mutation.
    Angelini C, Nascimbeni AC.
    Clin Genet; 2007 Apr 09; 71(4):374-5. PubMed ID: 17470141
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  • 11. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
    Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG.
    Hum Mutat; 2006 Oct 09; 27(10):999-1006. PubMed ID: 16917947
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  • 12. Molecular genetics of late onset glycogen storage disease II in Italy.
    Pittis MG, Filocamo M.
    Acta Myol; 2007 Jul 09; 26(1):67-71. PubMed ID: 17915575
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  • 16. Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
    Joshi PR, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer M.
    J Inherit Metab Dis; 2008 Dec 09; 31 Suppl 2():S261-5. PubMed ID: 18607768
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  • 19. Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
    Goina E, Musco L, Dardis A, Buratti E.
    Hum Mutat; 2019 Nov 09; 40(11):2121-2130. PubMed ID: 31301153
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  • 20. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
    Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, Teijeira S, Anyane-Yeboa K, Hirschhorn R.
    Neuromuscul Disord; 2002 Feb 09; 12(2):159-66. PubMed ID: 11738358
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