Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutation in GBE1 gene
|
| gptkbp:diagnosedBy |
genetic testing
nerve biopsy |
| gptkbp:firstDescribed |
1970
|
| gptkbp:fullName |
Adult Polyglucosan Body Disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
APBD
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:notableInPopulation |
Ashkenazi Jewish
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle weakness
cognitive impairment gait disturbance neurogenic bladder progressive neuropathy |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Pemerintah_Daerah
|
| gptkbp:bfsLayer |
8
|