@article{kyosen_müller_martins_d’almeida_2026, title={Diagnostic and Clinical-Epidemiological Insights into Pompe Disease: A Retrospective Analysis at a Reference Center for Inborn Errors of Metabolism}, volume={14}, ISSN={2326-4594}, url={https://doi.org/10.1590/2326-4594-JIEMS-2025-0010}, DOI={10.1590/2326-4594-JIEMS-2025-0010}, journal={Journal of Inborn Errors of Metabolism and Screening}, publisher={Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)}, author={Kyosen, Sandra Obikawa and Müller, Karen Barbosa and Martins, Ana Maria and d’Almeida, Vania}, year={2026}, pages={e20250010} }