Atypical immunologic response in a patient with CRIM-negative Pompe disease

We report the clinical course of a patient with severe infantile onset Pompe disease [cross-reactive immunologic material (CRIM) negative, R854X/R854X] who was diagnosed prenatally and received standard dosing of alglucosidase alfa (Myozyme®) enzyme replacement therapy (ERT) from day 10 of life unti...

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Bibliographische Detailangaben
Hauptverfasser: Abbott, Mary-Alice, Prater, Sean N., Banugaria, Suhrad G., Richards, Susan M., Young, Sarah P., Rosenberg, Amy S., Kishnani, Priya S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3711241/
https://ncbi.nlm.nih.gov/pubmed/21889385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.08.003
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