Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
glycogen storage disease metabolic disorder |
| gptkbp:affects |
gptkb:skeletal_muscle
red blood cells |
| gptkbp:alsoKnownAs |
GSD VII
Glycogen storage disease type VII |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:enzymeDeficiency |
gptkb:phosphofructokinase
|
| gptkbp:firstDescribed |
1965
Yasutomi Tarui |
| https://www.w3.org/2000/01/rdf-schema#label |
Tarui disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
PFKM gene
|
| gptkbp:OMIM |
232800
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:anemia
exercise intolerance muscle weakness muscle cramps myoglobinuria |
| gptkbp:treatment |
supportive care
dietary management |
| gptkbp:bfsParent |
gptkb:glycogen_storage_diseases
|
| gptkbp:bfsLayer |
7
|