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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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Boentert, Matthias, Prigent, Hélène, Várdi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Barrot Cortés, Emilia, Confalonieri, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2016
Assuntos:
Acesso em linha: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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