Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

IMPORTANCE: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has identified early muscle weakness. Biomarkers may...

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Detalles Bibliográficos
Autores principales: Jackson, David G., Case, Laura E., Huggins, Erin, Holland, Maggie, Blount, Janet, Webb, Lisa Hobson, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475841/
https://www.ncbi.nlm.nih.gov/pubmed/37670900
http://dx.doi.org/10.1016/j.ymgmr.2023.100989

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475841/
https://www.ncbi.nlm.nih.gov/pubmed/37670900
http://dx.doi.org/10.1016/j.ymgmr.2023.100989

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