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Journal Abstract Search

179 related items for PubMed ID: 1652892

  • 21. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Lin HY, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH, Niu DM.
    Hum Genet; 2010 Apr; 127(4):465. PubMed ID: 21488245
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  • 23. Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
    Tsunoda H, Ohshima T, Tohyama J, Sasaki M, Sakuragawa N, Martiniuk F.
    Hum Genet; 1996 Apr; 97(4):496-9. PubMed ID: 8834250
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  • 24. Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.
    Hermans MM, van Leenen D, Kroos MA, Reuser AJ.
    Biochem Biophys Res Commun; 1997 Dec 18; 241(2):414-8. PubMed ID: 9425285
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  • 26. Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.
    Su X, Sheng H, Huang Y, Li X, Zhang W, Zhao X, Li C, Liu L.
    Eur J Med Genet; 2020 Dec 18; 63(12):103997. PubMed ID: 32711049
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  • 27. Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
    Alila-Fersi O, Aloulou H, Werteni I, Mahfoudh N, Chabchoub I, Kammoun H, Keskes L, Hachicha M, Belguith N, Fakhfakh F.
    J Mol Neurosci; 2020 Jul 18; 70(7):1100-1109. PubMed ID: 32125626
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  • 28. 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 18; 43(5):665-70. PubMed ID: 21484825
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  • 30. Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.
    Amiñoso C, Gordillo-Marañón M, Hernández J, Solera J.
    Neuromuscul Disord; 2019 Mar 18; 29(3):187-191. PubMed ID: 30770309
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  • 31. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
    Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.
    Orphanet J Rare Dis; 2012 Jun 07; 7():35. PubMed ID: 22676651
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  • 32. The genotype-phenotype correlation in Pompe disease.
    Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):59-68. PubMed ID: 22253258
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  • 34. 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 15; 12(2):159-66. PubMed ID: 11738358
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  • 35. Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.
    Shemesh A, Wang Y, Yang Y, Yang GS, Johnson DE, Backer JM, Pessin JE, Zong H.
    Am J Physiol Regul Integr Comp Physiol; 2014 Nov 15; 307(10):R1251-9. PubMed ID: 25231351
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  • 36. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
    Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS, Mattaliano RJ, Marie SK.
    J Neurol; 2009 Nov 15; 256(11):1881-90. PubMed ID: 19588081
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  • 40. Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
    Fu L, Qiu W, Yu Y, Guo Y, Zhao P, Zhang X, Liu C, Li F, Huang H, Huang M, Chen S.
    Gene; 2014 Feb 01; 535(1):53-9. PubMed ID: 24269976
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