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Journal Abstract Search

507 related items for PubMed ID: 18458862

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  • 24. 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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  • 26. Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
    Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM.
    Clin Genet; 1998 May 15; 53(5):379-82. PubMed ID: 9660056
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  • 29. 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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  • 30. 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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  • 32. The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
    Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ.
    Biochem J; 1993 Feb 01; 289 ( Pt 3)(Pt 3):687-93. PubMed ID: 8094613
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  • 33. 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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  • 34. Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
    Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E.
    Hum Mol Genet; 2010 Feb 15; 19(4):684-96. PubMed ID: 19959526
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  • 35. A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).
    Aryani O, Manshadi MD, Tondar M, Khalili E, Kamalidehghan B, Ahmadipour F, Fani S, Houshmand M.
    Mol Biol Rep; 2014 Sep 15; 41(9):6211-4. PubMed ID: 24976573
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  • 38. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
    Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ.
    Hum Mol Genet; 1994 Dec 15; 3(12):2213-8. PubMed ID: 7881422
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  • 39. Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.
    Alcántara-Ortigoza MA, González-del Angel A, Barrientos-Ríos R, Cupples C, Garrido-García LM, de León-Bojorge B, Alva-Chaire Adel C.
    J Child Neurol; 2010 Aug 15; 25(8):1034-7. PubMed ID: 20350966
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