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Literature summary for 4.3.2.2 extracted from
- Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients (2009), Folia Neuropathol., 47, 314-320.
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| ADSL | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | adenylosuccinate lyase deficiency causes encephalopathy with epilepsy and marked psychomotor retardation | Homo sapiens |
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Release 2023.1 (January 2023)
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