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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...
Tallennettuna:
| Julkaisussa: | Case Rep Neurol Med |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Hindawi
2018
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| Aiheet: | |
| Linkit: | 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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