Associated Papers
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Chawla T et al.
Journal of Neuromuscular Diseases, 2022
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY et al.
European Journal of Human Genetics : Ejhg, 2021
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Ebbink BJ et al.
Developmental Medicine and Child Neurology, 2018
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
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
van Gelder CM et al.
Journal of Inherited Metabolic Disease, 2015
Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.
Musumeci O et al.
Molecular Genetics and Metabolism, 2012
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K et al.
Journal of Human Genetics, 2009
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
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