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Journal Abstract Search

176 related items for PubMed ID: 9425285

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  • 4. 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; 92(4):325-35. PubMed ID: 17723315
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  • 7. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):138-41. PubMed ID: 9196050
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  • 15. [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
    Liu Q, Zhao J, Wang ZX, Zhang W, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2013 Jul 02; 93(25):1981-5. PubMed ID: 24169249
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  • 17. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG.
    Mol Genet Metab; 2004 Mar 02; 81(3):203-8. PubMed ID: 14972326
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