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Journal Abstract Search

300 related items for PubMed ID: 20350966

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  • 7. New mutations and genotype-phenotype correlation in late-onset Pompe patients.
    Bekircan-Kurt CE, Güneş HN, Yildiz FG, Saka E, Tan E, Erdem-Özdamar S.
    Acta Neurol Belg; 2017 Mar; 117(1):269-275. PubMed ID: 28032299
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  • 8. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.
    Mol Genet Metab; 2013 Nov; 110(3):287-9. PubMed ID: 24011652
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  • 9. 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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  • 10. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.
    Ünver O, Hacıfazlıoğlu NE, Karatoprak E, Güneş AS, Sağer G, Kutlubay B, Sözen G, Saltık S, Yılmaz K, Kara B, Türkdoğan D.
    Neuromuscul Disord; 2016 Nov 25; 26(11):796-800. PubMed ID: 27666774
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  • 11. Late onset form of Pompe disease.
    Mattosova S, Hlavata A, Spalek P, Kotysova L, Macekova D, Chandoga J.
    Bratisl Lek Listy; 2015 Nov 25; 116(8):502-5. PubMed ID: 26350092
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  • 13. 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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  • 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 20; 107(3):485-9. PubMed ID: 23000108
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  • 16. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
    Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.
    Muscle Nerve; 2011 May 20; 43(5):665-70. PubMed ID: 21484825
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  • 19. Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
    Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, Diaz-Martinez R.
    Mol Genet Genomic Med; 2024 Jul 20; 12(7):e2480. PubMed ID: 38958145
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  • 20. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
    Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P, French Pompe Study Group.
    J Inherit Metab Dis; 2018 Nov 20; 41(6):937-946. PubMed ID: 30155607
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