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Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8396-0
Abstract: Pompe disease or glycogen storage disease type II (GSDII; OMIM #232300) is a rare recessive metabolic disorder caused by a deficiency in the lysosomal acid a-glucosidase activity resulting in lysosomal glycogen accumulation in different tissues.…
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Keywords:
lopd;
late onset;
pompe disease;
disease ... See more keywords