Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedAct |
G6PC10
G6PC3 G6PC6 G6PC7 G6PC9 G6Pase G6PC G6PC4 G6PC5 G6PC8 G6PT |
| gptkbp:associatedWith |
Von_Gierke_disease
|
| gptkbp:causedBy |
deficiency of glucose-6-phosphatase
|
| gptkbp:communityEngagement |
fatigue
abdominal pain irritability poor growth frequent infections |
| gptkbp:demographics |
rare disorder
|
| gptkbp:diseaseResistance |
blood tests
genetic testing urine tests liver biopsy |
| gptkbp:firstDescribedBy |
Dr. Emil Gierke
|
| gptkbp:geneticDiversity |
autosomal recessive
|
| https://www.w3.org/2000/01/rdf-schema#label |
Gierke's disease
|
| gptkbp:impact |
children
adults liver transplant dietary management glucose_supplementation |
| gptkbp:manager |
regular monitoring
enzyme replacement therapy education about condition |
| gptkbp:relatedPatent |
gptkb:cardiomyopathy
gout pancreatitis liver adenomas kidney_stones glycogen_storage_disease_type_I |
| gptkbp:releaseYear |
1929
|
| gptkbp:researchFocus |
biomarkers
gene therapy new treatment options long-term outcomes pathophysiology |
| gptkbp:riskManagement |
family history
|
| gptkbp:symptoms |
growth retardation
hypoglycemia hepatomegaly hyperuricemia lactic_acidosis |