Article
Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.
BMC pediatrics - 23 Dec 2019
Tian Maoqiang, Qu Yi, Huang Lingyi, Su Xiaojuan, Li Shiping, Ying Junjie, Zhao Fengyan, Mu Dezhi
Abstract excerpt
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 form. The latter is life-threatening and always leads to death during early childhood. Mild ISOD cases are rare and...
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