Associated Papers
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
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
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Select a paper to view details