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Journal Abstract Search

267 related items for PubMed ID: 24107549

  • 1. 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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  • 2. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.
    Mol Genet Metab; 2007 Dec 10; 92(4):325-35. PubMed ID: 17723315
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  • 5. Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
    Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP.
    J Neurol; 2014 Jan 10; 261(1):83-97. PubMed ID: 24158270
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  • 6. 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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  • 7. 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 25; 27(10):999-1006. PubMed ID: 16917947
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  • 12. Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.
    Amiñoso C, Solera J.
    Gene; 2022 Jan 15; 808():145967. PubMed ID: 34530085
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  • 15. 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 15; 107(3):485-9. PubMed ID: 23000108
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  • 16. Molecular genetics of late onset glycogen storage disease II in Italy.
    Pittis MG, Filocamo M.
    Acta Myol; 2007 Jul 15; 26(1):67-71. PubMed ID: 17915575
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  • 17. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
    Raben N, Plotz P, Byrne BJ.
    Curr Mol Med; 2002 Mar 15; 2(2):145-66. PubMed ID: 11949932
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  • 18. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
    Liu X, Wang Z, Jin W, Lv H, Zhang W, Que C, Huang Y, Yuan Y.
    BMC Med Genet; 2014 Dec 20; 15():141. PubMed ID: 25526786
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  • 19. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.
    BMC Med Genet; 2019 Sep 11; 20(1):156. PubMed ID: 31510962
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