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Published in 2021 at "Pulmonology"
DOI: 10.1016/j.pulmoe.2021.06.002
Abstract: Late-onset Pompe disease (LOPD) is an autosomal recessive disease caused by acid alpha glucosidase deficiency. The phenotype is a progressive proximal myopathy. Respiratory failure is the main life-threatening complication, usually resulting from diaphragm weakness, which…
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Keywords:
late onset;
disease lopd;
test;
onset pompe ... See more keywords