eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | glycogen storage disease ii |
| Comorbidity | C0017921|pompe disease |
| Sentences | 3 |
| PubMedID- 25052852 | Enzyme replacement therapy is currently the only approved treatment for pompe disease, due to acid alpha-glucosidase deficiency. |
| PubMedID- 26471939 | Following the discovery of gaa deficiency as the cause of pompe disease, a number of enzyme replacement trials have been conducted. |
| PubMedID- 23938739 | The concept of lysosomal storage diseases (lsds)--disorders characterized by aberrant, excessive storage of cellular material in lysosomes--developed following the discovery of alpha-glucosidase deficiency as the cause of pompe disease in 1963. |
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