Article

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency and literature review

2021-10-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Isolated sulfite oxidase deficiency (ISOD) is the rarest types of life-threatening neurometabolic disorders characterized by neonatal intractable seizures and severe developmental delay with an autosomal recessive mode of inheritance. ISOD is extremely rare and till date only 32 mutations have been identified and reported worldwide. Germline mutation in <italic>...

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Literature Corpus work: 18aac5d5-8bae-547b-a8ca-247314b67c7d
DOI: 10.21203/rs.3.rs-74199/v3

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