Associated Papers
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A et al.
Molecular Genetics and Metabolism Reports, 2023
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
33717985 (PubMed )
Supplement: mmc1.xlsx › Table_S1
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
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Niño MY et al.
Jimd Reports, 2013
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.
Seppälä EH et al.
Plos One, 2013
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P et al.
Molecular Genetics and Metabolism, 2010
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