Article

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

2021-11-23

Abstract excerpt

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 disrupted. The most common form of this disease has an early onset (classical ISOD) in the neonatal period, with hypoto...

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Literature Corpus work: 745e5a6d-baea-55c3-8079-d4a863b29ab2
DOI: 10.12688/hrbopenres.13442.1

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