The impact of interrupting enzyme replacement therapy in late-onset Pompe disease

BACKGROUND: Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory muscles. Enzyme replacement therapy (ERT), administered every second week, has been proven to slow down disease progres...

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Detalles Bibliográficos
Autores principales: Wenninger, Stephan, Gutschmidt, Kristina, Wirner, Corinna, Einvag, Krisztina, Montagnese, Federica, Schoser, Benedikt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903209/
https://www.ncbi.nlm.nih.gov/pubmed/33625582
http://dx.doi.org/10.1007/s00415-021-10475-z

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