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Chr.12 Google OMIM Orphanet PubMed Sulfocysteinuria *Gene map locus Chr.12 Sulfite oxidase deficiency [Clinical features: developmental delay; seizures; ischemic encephalopathy] [Inheritance: autosomal recessive] |
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Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature |
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Pediatrics |