title: Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.
abstract: A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic fibrosis.
authors.affiliation: University Department of Pediatrics, G Gaslini Institute, Genoa, Italy. cristinaschiaffino@ospedale-gaslini.ge.it
authors.forename: M C
authors.initials: MC
authors.lastname: Schiaffino
authors.forename: A R
authors.initials: AR
authors.lastname: Fantasia
authors.forename: G
authors.initials: G
authors.lastname: Minniti
authors.forename: U
authors.initials: U
authors.lastname: Caruso
authors.forename: F
authors.initials: F
authors.lastname: Carnevale
authors.forename: R
authors.initials: R
authors.lastname: Cerone
mesh_terms: D001049:Apnea / Q000209:etiology*; D003490:Cyanosis / Q000209:etiology; D004678:Encephalomalacia / Q000175:diagnosis / Q000209:etiology*; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism*; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D014556:Urine / Q000737:chemistry
chemical_list: D050862:Oxidoreductases Acting on Sulfur Group Donors