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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Sparad:
Bibliografiska uppgifter
I publikationen:Int J Mol Sci
Huvudupphovsmän: Boentert, Matthias, Prigent, Hélène, Várdi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Barrot Cortés, Emilia, Confalonieri, Marco
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2016
Ämnen:
Review
Länkar: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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