glycogen storage disease type IV
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
inherited metabolic disorder |
| gptkbp:affects |
glycogen branching enzyme
|
| gptkbp:alsoKnownAs |
gptkb:Andersen_disease
|
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| gptkbp:firstDescribed |
gptkb:Dorothy_Hansine_Andersen
1956 |
| https://www.w3.org/2000/01/rdf-schema#label |
glycogen storage disease type IV
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:GBE1_gene
|
| gptkbp:OMIM |
232500
|
| gptkbp:onset |
childhood
|
| gptkbp:result |
abnormal glycogen structure
|
| gptkbp:symptom |
muscle weakness
liver cirrhosis hepatosplenomegaly |
| gptkbp:treatment |
liver transplantation
|
| gptkbp:bfsParent |
gptkb:Norwegian_Forest_Cat
|
| gptkbp:bfsLayer |
6
|