Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review

Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the oxidative degradation of toxic sulfites is di...

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Detalles Bibliográficos
Autores principales: Pavel, Andreea M, Stephens, Carol M, Mathieson, Sean R, Walsh, Brian H, McNamara, Brian, McSweeney, Niamh, Boylan, Geraldine B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669778/
https://www.ncbi.nlm.nih.gov/pubmed/34957373
http://dx.doi.org/10.12688/hrbopenres.13442.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669778/
https://www.ncbi.nlm.nih.gov/pubmed/34957373
http://dx.doi.org/10.12688/hrbopenres.13442.1

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