Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease
Background/aims: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to hi...
Bewaard in:
| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Elsevier
2014-01-01
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| Reeks: | Molecular Genetics and Metabolism Reports |
| Onderwerpen: | |
| Online toegang: | http://www.sciencedirect.com/science/article/pii/S2214426913000049 |
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