eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gaucher disease |
| Comorbidity | C0017205|glucocerebrosidase deficiency |
| Sentences | 3 |
| PubMedID- 26085065 | Beta-glucocerebrosidase deficiency leads to gaucher disease and is a potential marker of parkinson's disease. |
| PubMedID- 23386328 | Type 1 gaucher disease (gd1), resulting from glucocerebrosidase deficiency, leads to splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone involvement. |
| PubMedID- 26578874 | Glucosylceramide accumulation in gaucher disease (gd), resulting from glucocerebrosidase deficiency, has been shown to augment cytokine production in microglia (hong et al., 2006). |
Page: 1