Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
Parkinson's disease
|
| gptkbp:category |
lysosomal storage disease
|
| gptkbp:causedBy |
glucocerebrosidase deficiency
|
| gptkbp:chemicalFormula |
glycolipid metabolism
|
| gptkbp:clinicalTrials |
neurological symptoms
ongoing studies growth retardation thrombocytopenia phase 3 trials gene therapy trials pulmonary complications |
| gptkbp:commonName |
gptkb:French_Canadians
Ashkenazi Jews Iberian_Peninsula_populations |
| gptkbp:demographics |
1 in 40,000 births
|
| gptkbp:diseaseResistance |
genetic testing
enzyme assay |
| gptkbp:geneticDiversity |
autosomal recessive
|
| gptkbp:historicalContext |
discovered in 1882
named_after_Philippe_Gaucher |
| https://www.w3.org/2000/01/rdf-schema#label |
Gaucher disease
|
| gptkbp:impact |
improved quality of life
reduced symptoms enzyme replacement therapy substrate reduction therapy long-term outcomes increased lifespan enzyme replacement therapy efficacy spleen removal surgery substrate reduction therapy efficacy |
| gptkbp:introduced |
gptkb:Philippe_Gaucher
|
| gptkbp:researchFocus |
biomarkers
gene therapy new enzyme therapies |
| gptkbp:riskManagement |
family history
carrier status ethnic background |
| gptkbp:symptoms |
anemia
fatigue bone pain easy bruising enlarged liver enlarged spleen |
| gptkbp:type |
Type 1
Type 2 Type 3 |
| gptkbp:was_marked_by |
bone density
spleen size glucosylceramide_levels |