Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
glucose metabolism
|
| gptkbp:alsoKnownAs |
Glycogenosis type Ib
|
| gptkbp:characterizedBy |
gptkb:hypoglycemia
neutropenia recurrent infections hepatomegaly hyperlipidemia lactic acidosis growth retardation hyperuricemia impaired glucose-6-phosphate transport |
| gptkbp:diagnosedBy |
genetic testing
clinical features |
| gptkbp:firstDescribed |
1978
|
| gptkbp:fullName |
Glycogen Storage Disease Type Ib
|
| https://www.w3.org/2000/01/rdf-schema#label |
GSD Ib
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC37A4_gene
|
| gptkbp:OMIM |
232220
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:GSD_Ia
|
| gptkbp:treatment |
gptkb:granulocyte_colony-stimulating_factor
cornstarch therapy frequent carbohydrate-rich meals |
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_I
|
| gptkbp:bfsLayer |
7
|