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Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). Clinically, the disorder is classified as one of two forms: the late-onset mild form or the classic early-onset fo...
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| Publicado no: | BMC Pediatr |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6927172/ https://ncbi.nlm.nih.gov/pubmed/31870341 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1889-5 |
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