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Journal Abstract Search

137 related items for PubMed ID: 8834250

  • 1. 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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  • 2. 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. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
    Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R.
    Hum Mol Genet; 1994 Jul 01; 3(7):1081-7. PubMed ID: 7981676
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  • 10. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
    Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R.
    Biochem Biophys Res Commun; 1998 Mar 27; 244(3):921-7. PubMed ID: 9535769
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  • 13. Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
    Raben N, Nichols RC, Boerkoel C, Plotz P.
    Muscle Nerve Suppl; 1995 Mar 27; 3():S70-4. PubMed ID: 7603531
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  • 14. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
    Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N.
    Am J Hum Genet; 1995 Apr 27; 56(4):887-97. PubMed ID: 7717400
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  • 15. Genotype-phenotype correlation in adult-onset acid maltase deficiency.
    Wokke JH, Ausems MG, van den Boogaard MJ, Ippel EF, van Diggelene O, Kroos MA, Boer M, Jennekens FG, Reuser AJ, Ploos van Amstel HK.
    Ann Neurol; 1995 Sep 27; 38(3):450-4. PubMed ID: 7668832
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  • 17. Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
    Teng YT, Su WJ, Hou JW, Huang SF.
    Chang Gung Med J; 2004 May 27; 27(5):379-84. PubMed ID: 15366815
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  • 18. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.
    Lin CY, Shieh JJ.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1996 May 27; 37(2):115-21. PubMed ID: 8935410
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  • 19. Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.
    Aung-Htut MT, Ham KA, Tchan MC, Fletcher S, Wilton SD.
    Genes (Basel); 2020 Jan 28; 11(2):. PubMed ID: 32012848
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