Application | Comment | Organism |
---|---|---|
medicine | low plasma total homocysteine is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
Y343X | isolated sulfite oxidase deficiency, shows early neonatal leukoencephalopathy and extensive symmetric cerebral injury especially white matter and basal ganglia | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |