Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
leukodystrophy lysosomal storage disorder |
| gptkbp:affects |
central nervous system
|
| gptkbp:causedBy |
mutation in GALC gene
|
| gptkbp:frequency |
rare
|
| gptkbp:hasBiomarker |
low galactocerebrosidase activity
|
| gptkbp:hasParentDisease |
Krabbe disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
Late-onset Krabbe disease
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
childhood
adolescence adulthood |
| gptkbp:symptom |
cognitive decline
spasticity vision loss ataxia progressive weakness |
| gptkbp:treatment |
supportive care
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:E75.22
|
| gptkbp:bfsLayer |
7
|