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Pubmed for Handhelds

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Journal Abstract Search

250 related items for PubMed ID: 10737124

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  • 22. Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II.
    Galehdari H, Emami M, Mohammadian G, Khodadadi A, Azmoon S, Baradaran M.
    Arch Iran Med; 2013 Feb; 16(2):126-8. PubMed ID: 23360637
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  • 25. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
    Hermans MM, Kroos MA, de Graaff E, Oostra BA, Reuser AJ.
    Hum Mutat; 1993 Feb; 2(4):268-73. PubMed ID: 8401535
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  • 26. Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.
    Grzesiuk AK, Shinjo SM, da Silva R, Machado M, Galera MF, Marie SK.
    Arq Neuropsiquiatr; 2010 Apr; 68(2):194-7. PubMed ID: 20464284
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  • 27. Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
    Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, Lee KC, Chan YW, Martiniuk F.
    Neurology; 2003 Feb 25; 60(4):715-7. PubMed ID: 12601120
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  • 31. Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
    Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G.
    Orphanet J Rare Dis; 2013 Oct 10; 8():159. PubMed ID: 24107549
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  • 38. Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
    Huie ML, Anyane-Yeboa K, Guzman E, Hirschhorn R.
    Am J Hum Genet; 2002 Apr 10; 70(4):1054-7. PubMed ID: 11854868
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  • 39. Novel GAA mutations in patients with Pompe disease.
    Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB.
    Gene; 2015 Apr 25; 561(1):124-31. PubMed ID: 25681614
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  • 40. Helios gene gun particle delivery for therapy of acid maltase deficiency.
    Martiniuk F, Chen A, Mack A, Donnabella V, Slonim A, Bulone L, Arvanitopoulos E, Raben N, Plotz P, Rom WN.
    DNA Cell Biol; 2002 Oct 25; 21(10):717-25. PubMed ID: 12443541
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