EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
    3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
10874636 |
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. |
unassigned |
0 |
| 3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
23857568 |
A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis. |
causal interaction
unassigned |
3
0 |
| 3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
10191108 |
A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL. |
causal interaction
unassigned |
4
0 |
| 3.1.2.22 | Neurodegenerative Diseases |
15979943 |
AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. |
causal interaction
unassigned |
4
0 |
| 3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
15979943 |
AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. |
causal interaction
unassigned |
4
0 |
| 3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
17261688 |
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. |
causal interaction
unassigned |
4
0 |
| 3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
11506414 |
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
4
3
0 |
| 3.1.2.22 | palmitoyl[protein] hydrolase deficiency |
11506414 |
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
4
3
0 |
| 3.1.2.22 | Lysosomal Storage Diseases |
25253854 |
An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. |
causal interaction
unassigned |
3
0 |
| 3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
25253854 |
An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. |
causal interaction
unassigned |
3
0 |
