Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
|
| gptkbp:affects |
glycogen metabolism
|
| gptkbp:alsoKnownAs |
gptkb:Andersen_disease
glycogen branching enzyme deficiency |
| gptkbp:causedBy |
mutations in GBE1 gene
|
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| gptkbp:firstDescribed |
gptkb:Dorothy_Hansine_Andersen
1956 |
| https://www.w3.org/2000/01/rdf-schema#label |
GSD IV
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
infancy or early childhood
|
| gptkbp:prognosis |
poor without transplantation
|
| gptkbp:symptom |
liver cirrhosis
failure to thrive hepatosplenomegaly |
| gptkbp:treatment |
liver transplantation
|
| gptkbp:bfsParent |
gptkb:Andersen's_disease
gptkb:Andersen_disease |
| gptkbp:bfsLayer |
7
|