title: Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.
authors.affiliation: Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan. Electronic address: muffychen@gmail.com.
authors.forename: Li-Wen
authors.initials: LW
authors.lastname: Chen
authors.affiliation: Department of Radiology, National Cheng Kung University Hospital, Tainan, Taiwan.
authors.forename: Yi-Shan
authors.initials: YS
authors.lastname: Tsai
authors.affiliation: Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan; Department of Pediatrics, Taipei Medical University Medical College, Taipei, Taiwan.
authors.forename: Chao-Ching
authors.initials: CC
authors.lastname: Huang
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002946:Cisterna Magna / Q000000981:diagnostic imaging; D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000209:etiology* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000235:genetics*; D050876:Sulfite Oxidase / Q000172:deficiency* / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: D018389:Codon, Nonsense; D050862:Oxidoreductases Acting on Sulfur Group Donors; C503599:SUOX protein, human; D050876:Sulfite Oxidase