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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927172/ https://www.ncbi.nlm.nih.gov/pubmed/31870341 http://dx.doi.org/10.1186/s12887-019-1889-5 |