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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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Dettagli Bibliografici
Pubblicato in:Int J Mol Sci
Autori principali: Boentert, Matthias, Prigent, Hélène, Várdi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Barrot Cortés, Emilia, Confalonieri, Marco
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2016
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Accesso online: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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