Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
metabolic disorder |
| gptkbp:affects |
liver
|
| gptkbp:alsoKnownAs |
GSD VI
glycogen storage disease type VI |
| gptkbp:causedBy |
deficiency of liver glycogen phosphorylase
|
| gptkbp:diagnosedBy |
liver biopsy
enzyme assay |
| https://www.w3.org/2000/01/rdf-schema#label |
Hers disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
Henri G. Hers
|
| gptkbp:symptom |
hepatomegaly
growth retardation mild hypoglycemia |
| gptkbp:treatment |
dietary management
|
| gptkbp:bfsParent |
gptkb:Glycogen_phosphorylase
gptkb:glycogen_phosphorylase gptkb:glycogen_storage_diseases gptkb:Glycogen_Storage_Disease_Type_VI |
| gptkbp:bfsLayer |
7
|