Statements (47)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:diabetes
|
| gptkbp:affects |
glycogen metabolism
|
| gptkbp:associated_with |
gptkb:Cardiology
gptkb:muscular_dystrophy growth retardation hypotonia hepatomegaly |
| gptkbp:caused_by |
enzyme deficiencies
|
| gptkbp:diagnosis |
blood tests
genetic testing urine tests biopsy |
| gptkbp:discovered_by |
gptkb:Carl_Friedrich_von_Gierke
|
| gptkbp:first_described_by |
1950s
|
| gptkbp:genetic_studies |
mutations in genes
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen storage disease
|
| gptkbp:inherits_from |
X-linked
autosomal recessive |
| gptkbp:prevalence |
rare
|
| gptkbp:promoter |
gptkb:G6_PC
gptkb:GAA gptkb:LAMP2 gptkb:PHKA2 gptkb:PRKAG2 gptkb:SLC37_A4 AGL G6 PT PHKB PYGL GBE1 GYS1 GYS2 PHKA1 |
| gptkbp:research |
ongoing
|
| gptkbp:symptoms |
muscle weakness
hypoglycemia liver enlargement |
| gptkbp:treatment |
gptkb:Biology
liver transplant dietary management |
| gptkbp:type_of |
gptkb:Type_I
gptkb:Type_II gptkb:Type_III Type IV Type V |
| gptkbp:bfsParent |
gptkb:Henning_von_Gierke
|
| gptkbp:bfsLayer |
6
|