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Clinical, neuroimaging, and genetic analysis of isolated sulfite oxidase deficiency in Chinese neonates: A case series and literature review

2025-12-02

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : Currently, no curative treatment is available for infantile sulfite oxidase deficiency (ISOD), and disease progression is primarily managed by restricting sulfur-containing amino acids in the diet. Furthermore, despite its overall rarity, the prevalence of ISOD has demonstrated an upward trend in the Chinese population in recent years. Accordingly, this stud...

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Literature Corpus work
59d50bf1-4ba2-5c94-9ccf-4e9ea159e34a
DOI
10.21203/rs.3.rs-8105066/v1
Open publication

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Clinical, neuroimaging, and genetic analysis of isolated sulfite oxidase deficiency in Chinese neonates: A case series and literature reviewDOI 10.21203/rs.3.rs-8105066/v1
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