Late-Onset Pompe Disease with Nemaline Bodies

Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Althoug...

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Bibliographic Details
Published in:Case Rep Neurol Med
Main Authors: Frezza, E., Terracciano, C., Giacanelli, M., Rastelli, E., Greco, G., Massa, R.
Format: Artigo
Language:Inglês
Published: Hindawi 2018
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180937/
https://ncbi.nlm.nih.gov/pubmed/30363678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/4127213
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