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
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
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
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
Schoser BG et al.
Neuropathology and Applied Neurobiology, 2007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Müller-Felber W et al.
Neuromuscular Disorders : Nmd, 2007
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Anneser JM et al.
Neurology, 2005
Select a paper to view details