Associated Papers
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Wens SC et al.
Molecular Genetics and Metabolism, 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012
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