Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more...

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Enregistré dans:
Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: Boentert, Matthias, Prigent, Hélène, Várdi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Barrot Cortés, Emilia, Confalonieri, Marco
Format: Artigo
Langue:Inglês
Publié: MDPI 2016
Sujets:
Review
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5085764/
https://ncbi.nlm.nih.gov/pubmed/27763517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17101735
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