Associated Papers
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
[Brevundimonas vesicularis bacteremia in an infant presenting with Pompe disease].
Ben Haj Khalifa A et al.
Medecine Et Maladies Infectieuses, 2012
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
Ebrahim HY et al.
Journal of Inherited Metabolic Disease, 2012
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
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Hermans MM et al.
Human Mutation, 1998
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