Associated Papers
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.
Moschetti M et al.
International Journal of Molecular Sciences, 2024
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
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
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
New mutations and genotype-phenotype correlation in late-onset Pompe patients.
Bekircan-Kurt CE et al.
Acta Neurologica Belgica, 2017
[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
Guevara-Campos J et al.
Revista De Neurologia, 2013
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