Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Abstract 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 impa...

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Bibliographic Details
Main Authors: Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens, Pieter A. van Doorn
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Pompe disease
Neuromuscular disease
Lysosomal storage disease
MRI
Diaphragm
Respiratory function
Online Access:https://doi.org/10.1186/s13023-020-01627-x

Internet

https://doi.org/10.1186/s13023-020-01627-x

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