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BRENDA support

Literature summary for 1.8.3.1 extracted from

  • Basheer, S.N.; Waters, P.J.; Lam, C.W.; Acquaviva-Bourdain, C.; Hendson, G.; Poskitt, K.; Hukin, J.
    Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy (2007), Neuropediatrics, 38, 38-41.
    View publication on PubMed

Application

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

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

Organism UniProt Comment Textmining
Homo sapiens
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