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Journal Abstract Search

115 related items for PubMed ID: 8912788

  • 1.
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  • 2. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.
    Martiniuk F, Bodkin M, Tzall S, Hirschhorn R.
    Am J Hum Genet; 1990 Sep; 47(3):440-5. PubMed ID: 2203258
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  • 3. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
    Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ.
    Eur J Hum Genet; 2008 Aug; 16(8):875-9. PubMed ID: 18301443
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  • 4. 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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  • 5. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA.
    Gene; 2014 Mar 01; 537(1):41-5. PubMed ID: 24384324
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  • 6. 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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  • 8. Identification of the promoter region and gene expression for human acid alpha glucosidase.
    Tzall S, Martiniuk F.
    Biochem Biophys Res Commun; 1991 May 15; 176(3):1509-15. PubMed ID: 1645546
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  • 9. Molecular cloning of acid alpha-glucosidase cDNA of Japanese quail (Coturnix coturnix japonica) and the lack of its mRNA in acid maltase deficient quails.
    Kunita R, Nakabayashi O, Wu JY, Hagiwara Y, Mizutani M, Pennybacker M, Chen YT, Kikuchi T.
    Biochim Biophys Acta; 1997 Dec 31; 1362(2-3):269-78. PubMed ID: 9540858
    [Abstract] [Full Text] [Related]

  • 10. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
    Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R.
    DNA Cell Biol; 1991 Nov 31; 10(9):681-7. PubMed ID: 1684505
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  • 11. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
    Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K.
    J Hum Genet; 2019 Aug 31; 64(8):741-755. PubMed ID: 31076647
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  • 13. Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.
    Ebrahimi M, Behnam M, Behranvand-Jazi N, Yari L, Sheikh-Kanlomilan S, Salehi M, Tahmasebi P, Amini M, Behjati M, Hosseini N.
    J Res Med Sci; 2017 Aug 31; 22():100. PubMed ID: 28900456
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  • 14. 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 31; 97(4):496-9. PubMed ID: 8834250
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  • 19. 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 31; 92(4):325-35. PubMed ID: 17723315
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