Associated Papers
[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].
Yang Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
[Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency].
Wang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.
Li JT et al.
Orphanet Journal of Rare Diseases, 2022
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
Very early neuroimages of sulfite oxidase deficiency mimicing severe hypoxic ischemic encephalopathy in a neonate.
Ren Z et al.
Pediatrics and Neonatology, 2021
Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.
Du P et al.
Molecular Genetics & Genomic Medicine, 2021
Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.
Zhao J et al.
Frontiers in Genetics, 2021
Isolated sulfite oxidase deficiency.
Claerhout H et al.
Journal of Inherited Metabolic Disease, 2018
Prenatal brain disruption in isolated sulfite oxidase deficiency.
Lee HF et al.
Orphanet Journal of Rare Diseases, 2017
Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.
Chen LW et al.
Pediatric Neurology, 2014
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
Cho SY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
⁹⁹mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency.
Huang YL et al.
Pediatric Neurology, 2012