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Pompe disease: Shared and unshared features of lysosomal storage disorders
Pompe disease, an inherited deficiency of lysosomal acid α-glucosidase (GAA), is a severe metabolic myopathy with a wide range of clinical manifestations. It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which a therapy (enzyme replacement) has been appr...
Gorde:
| Argitaratua izan da: | Rare Dis |
|---|---|
| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Taylor & Francis
2015
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4620984/ https://ncbi.nlm.nih.gov/pubmed/26619007 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21675511.2015.1068978 |
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