Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction

PURPOSE: To assess the magnitude of benefit to early treatment initiation, enabled by newborn screening or prenatal diagnosis, in patients with cross-reactive immunological material (CRIM)-negative infantile Pompe disease (IPD), treated with enzyme replacement therapy (ERT) and prophylactic immune t...

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Veröffentlicht in:Genet Med
Hauptverfasser: Li, Cindy, Desai, Ankit K., Gupta, Punita, Dempsey, Katherine, Bhambhani, Vikas, Hopkin, Robert J., Ficicioglu, Can, Tanpaiboon, Pranoot, Craigen, William J., Rosenberg, Amy S., Kishnani, Priya S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2021
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8107133/
https://ncbi.nlm.nih.gov/pubmed/33495531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01080-y
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