Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review

• Main Authors: Maoqiang Tian (Author), Yi Qu (Author), Lingyi Huang (Author), Xiaojuan Su (Author), Shiping Li (Author), Junjie Ying (Author), Fengyan Zhao (Author), Dezhi Mu (Author)
• Format: Book
• Published: BMC, 2019-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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-...