Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report a small cohort of IOPD subjects under ERT treatme...

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Detalles Bibliográficos
Autores principales: Paoletti, Matteo, Pichiecchio, Anna, Colafati, Giovanna Stefania, Conte, Giorgio, Deodato, Federica, Gasperini, Serena, Menni, Francesca, Furlan, Francesca, Rubert, Laura, Triulzi, Fabio Maria, Cinnante, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732650/
https://www.ncbi.nlm.nih.gov/pubmed/33329311
http://dx.doi.org/10.3389/fneur.2020.569153

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