Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme®
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Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-90-481-2813-6_4.pdf
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2. An Y, Young SP, Kishnani PS, et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 2005; 85:247–254.
3. Bijvoet AG, Van Hirtum H, Kroos MA, et al. Human acid alphaglucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 1999; 8:2145–2153.
4. Chamoles NA, Niizawa G, Blanco M, et al. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 2004; 347:97–102.
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