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Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing. Genetic evaluation revealed undetectable plasma iduronate-2-sulfatase enzyme activity and an inversion between intron 7 of...

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Detalles Bibliográficos
Autores principales: Julien, Daniel C., Woolgar, Kara, Pollard, Laura, Miller, Holly, Desai, Ankit, Lindstrom, Kristin, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253587/
https://www.ncbi.nlm.nih.gov/pubmed/32508845
http://dx.doi.org/10.3389/fimmu.2020.01000