Associated Papers
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Boueri M et al.
Molecular Genetics and Metabolism, 2026
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 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
Pompe disease: early diagnosis and early treatment make a difference.
Chien YH et al.
Pediatrics and Neonatology, 2013
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012
Rapid progressive course of later-onset Pompe disease in Chinese patients.
Yang CC et al.
Molecular Genetics and Metabolism, 2011
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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