Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review
Abstract 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-...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
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BMC,
2019-12-01T00:00:00Z.
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