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Infantile‐onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype

Infantile‐onset Pompe disease manifests with early signs of cardiomyopathy during the first few days to weeks of life. We present the case of a newborn born via emergency cesarean section with atrial flutter and moderate biventricular hypertrophy who was diagnosed with Pompe disease on New York Stat...

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Detalles Bibliográficos
Autores principales: Riedy, Mary, Zhang, Jeff F., Huang, Taosheng, Swayampakula, Anil Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830011/
https://www.ncbi.nlm.nih.gov/pubmed/36636589
http://dx.doi.org/10.1002/jmd2.12337

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