Associated Papers
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Chawla T et al.
Journal of Neuromuscular Diseases, 2022
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
Dou W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Laforêt P et al.
Neurology, 2000
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