Associated Papers
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
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency.
Wary C et al.
Neuromuscular Disorders : Nmd, 2003
[Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry].
Laforêt P et al.
Revue Neurologique, 2003
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Laforêt P et al.
Neurology, 2000
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
Zhou XY et al.
Human Molecular Genetics, 1996
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