Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
medical condition
|
| gptkbp:affects |
lysosomal function
|
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
gptkb:Gaucher_disease |
| gptkbp:cause |
hepatosplenomegaly
neurological symptoms bone abnormalities |
| gptkbp:causedBy |
mutations in GBA gene
|
| gptkbp:diagnosedBy |
enzyme assay
|
| https://www.w3.org/2000/01/rdf-schema#label |
GCase deficiency
|
| gptkbp:impact |
glucocerebrosidase enzyme activity
|
| gptkbp:result |
glucocerebroside accumulation
|
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:glucocerebrosidase_deficiency
|
| gptkbp:bfsLayer |
7
|