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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Enregistré dans:
Détails bibliographiques
Publié dans:J Neurol
Auteurs principaux: Wenninger, Stephan, Gutschmidt, Kristina, Wirner, Corinna, Einvag, Krisztina, Montagnese, Federica, Schoser, Benedikt
Format: Artigo
Langue:Inglês
Publié: Springer Berlin Heidelberg 2021
Sujets:
Original Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7903209/
https://ncbi.nlm.nih.gov/pubmed/33625582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-021-10475-z
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