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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Bibliografiset tiedot
Julkaisussa:Orphanet J Rare Dis
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2021
Aiheet:
Research
Linkit: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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