Associated Papers
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S4
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Sidorina A et al.
Journal of Inherited Metabolic Disease, 2021
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
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
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Pittis MG et al.
Human Mutation, 2008
Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease.
Taurisano R et al.
Journal of Neuromuscular Diseases, 0
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