eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lysosomal storage disorders |
| Comorbidity | C0017921|acid alpha-glucosidase deficiency |
| Sentences | 2 |
| PubMedID- 20875764 | Background: pompe disease (acid alpha-glucosidase deficiency) is one of several lysosomal storage diseases amenable to treatment with enzyme replacement therapy (ert). |
| PubMedID- 24399865 | Glycogenosis ii (gsd ii) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase deficiency, subsequent accumulation of glycogen in tissues, impairment of autophagic processes and progressive cardiac, motor and respiratory failure. |
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