Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

BACKGROUND: In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm early in the disease course. Mildly impaired dia...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gijs, Pittaro, Alice, van Kooten, Harmke A., van der Beek, Nadine A. M. E., Brusse, Esther, Wielopolski, Piotr A., de Bruijne, Marleen, van der Ploeg, Ans T., Tiddens, Harm A. W. M., van Doorn, Pieter A.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7789462/
https://ncbi.nlm.nih.gov/pubmed/33413525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01627-x
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