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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Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2021
Teme:
Research
Online dostop: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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