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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Detalles Bibliográficos
Autores principales: Gupta, Punita, Shayota, Brian J., Desai, Ankit K., Kiblawi, Fuad, Myridakis, Dorothy, Messina, John, Tah, Peter, Tambini-King, Lorien, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7498628/
https://www.ncbi.nlm.nih.gov/pubmed/33013846
http://dx.doi.org/10.3389/fimmu.2020.01929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7498628/
https://www.ncbi.nlm.nih.gov/pubmed/33013846
http://dx.doi.org/10.3389/fimmu.2020.01929

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