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Isolated sulfite oxidase deficiency: a founder mutation
Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. Missed diagnosis is not unusual b...
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| Veröffentlicht in: | Cold Spring Harb Mol Case Stud |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cold Spring Harbor Laboratory Press
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7784486/ https://ncbi.nlm.nih.gov/pubmed/33335014 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005900 |
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