A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease

We report the clinical course of the first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in the GAA gene] to undergo prophylactic immune tolerance induction (ITI) and enzyme replacement...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Gupta, Punita, Shayota, Brian J., Desai, Ankit K., Kiblawi, Fuad, Myridakis, Dorothy, Messina, John, Tah, Peter, Tambini-King, Lorien, Kishnani, Priya S.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7498628/
https://ncbi.nlm.nih.gov/pubmed/33013846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2020.01929
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