Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
lactate dehydrogenase A enzyme
|
| gptkbp:alsoKnownAs |
glycogen storage disease XI
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1980
|
| https://www.w3.org/2000/01/rdf-schema#label |
LDH-A deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:LDHA_gene
|
| gptkbp:OMIM |
612933
|
| gptkbp:symptom |
exercise intolerance
muscle pain myoglobinuria |
| gptkbp:bfsParent |
gptkb:LDH-A
|
| gptkbp:bfsLayer |
7
|