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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Veröffentlicht in:BMC Pediatr
Hauptverfasser: Tian, Maoqiang, Qu, Yi, Huang, Lingyi, Su, Xiaojuan, Li, Shiping, Ying, Junjie, Zhao, Fengyan, Mu, Dezhi
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2019
Schlagworte:
Case Report
Online Zugang: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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