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Journal Abstract Search

153 related items for PubMed ID: 10206684

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  • 8. 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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  • 11. 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 09; 3(7):1081-7. PubMed ID: 7981676
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  • 13. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
    Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG.
    Neurology; 2005 Jan 25; 64(2):368-70. PubMed ID: 15668445
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  • 14. [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
    Qiu JJ, Wei M, Zhang WM, Shi HP.
    Zhonghua Er Ke Za Zhi; 2007 Oct 25; 45(10):760-4. PubMed ID: 18211760
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  • 16. 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 25; 12(2):159-66. PubMed ID: 11738358
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