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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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Research
Online Erişim: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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