Mutation at the Catalytic Site (M519V) in Glycogen Storage Disease Type II (Pompe Disease)
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Citing Articles
A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.
Esmer C, Becerra-Becerra R, Pena-Zepeda C, Bravo-Oro A Acta Myol. 2014; 32(2):95-9.
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A review of treatment of Pompe disease in infants.
Chien Y, Hwu W Biologics. 2009; 1(3):195-201.
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Hirschhorn R, Huie M, Kasper J Proc Natl Acad Sci U S A. 2002; 99(21):13642-6.
PMID: 12370436 PMC: 129728. DOI: 10.1073/pnas.202383599.