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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 101 - 108
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | MOLYBDENUM COFACTOR | MIMICS | FEATURES | FAMILY | IMPORT | THERAPY | HYPOXIC-ISCHEMIC ENCEPHALOPATHY | MUTATION | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | PATIENT | Predictive Value of Tests | Biomarkers - urine | Prognosis | Humans | Child, Preschool | Infant | Male | Electroencephalography | Sulfite Oxidase - deficiency | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - genetics | DNA Mutational Analysis | Female | Oxidoreductases Acting on Sulfur Group Donors - deficiency | Child | Infant, Newborn | Genetic Predisposition to Disease | Sulfite Oxidase - genetics | Risk Factors | Biomarkers - blood | Amino Acid Metabolism, Inborn Errors - therapy | Magnetic Resonance Imaging | Phenotype | Oxidoreductases Acting on Sulfur Group Donors - genetics | Mutation | Amino Acid Metabolism, Inborn Errors - enzymology | Oxidases | Medical research | Sulfites | Nervous system diseases | Cysteine | Molybdenum compounds | Gene mutations | Analysis | Medicine, Experimental | Seizures (Medicine) | Uric acid | Homocysteine | Urine | Cerebellum | Neuroimaging | Neonates | Plasma | Nuclear magnetic resonance--NMR | Spasticity | Substantia alba | Molybdenum | Mental retardation | Feeding | Literature reviews | Sulfite | Atrophy | Microencephaly | Magnetic resonance imaging | Computed tomography | Sulfite oxidase | Neurological complications | Consanguinity | Seizures
Journal Article
Neurosciences, ISSN 1319-6138, 2016, Volume 21, Issue 4, pp. 376 - 378
Journal Article
Journal of Neonatal-Perinatal Medicine, ISSN 1934-5798, 05/2015, Volume 8, Issue 1, pp. 53 - 55
Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature. We report a case of... 
Sulfite oxidase deficiency | neonatal | refractory seizures
Journal Article
Biochemical Journal, ISSN 0264-6021, 07/2015, Volume 469, Issue 2, pp. 211 - 221
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2017, Volume 12, Issue 1, pp. 115 - 5
Background: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal... 
Prenatal period | Isolated sulfite oxidase deficiency | Brain MRI | Brain disruption | MEDICINE, RESEARCH & EXPERIMENTAL | HOMEOSTASIS | ENERGY | NEWBORN | MUTATION | GENETICS & HEREDITY | MOLYBDENUM COFACTOR DEFICIENCY | Brain - diagnostic imaging | Brain - embryology | Genetic Predisposition to Disease | Sulfite Oxidase - genetics | Humans | Amino Acid Metabolism, Inborn Errors - embryology | Sulfite Oxidase - deficiency | Amino Acid Metabolism, Inborn Errors - diagnosis | Gene Expression Regulation, Enzymologic | Pregnancy | Magnetic Resonance Imaging | Amino Acid Metabolism, Inborn Errors - genetics | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Sulfite Oxidase - metabolism | Brain - pathology | Female | Amino Acid Metabolism, Inborn Errors - pathology | Mutation | Infant, Newborn | Infants (Newborn) | Usage | Magnetic resonance imaging | Analysis | Fetus | Genetic aspects | Protein deficiency | Diagnosis | Research | Health aspects | Neuroimaging | Neonates | Plasma | Cysteine | Nuclear magnetic resonance--NMR | Homeostasis | Amino acids | Gestational age | Amino acid substitution | Ischemia | Encephalopathy | Cortex (frontal) | Spectrum analysis | Age | Movement disorders | Cortex (temporal) | Seizures | Tyrosine | Medical imaging | Fetuses | Cortex | Stop codon | Uric acid | Patients | Molybdenum | Sulfite | Ostomy | Sulfite oxidase | Hypoxia
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2005, Volume 280, Issue 39, pp. 33506 - 33515
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2012, Volume 35, Issue 6, pp. 1031 - 1036
Journal Article
Journal Article
Gene, ISSN 0378-1119, 12/2013, Volume 531, Issue 2, pp. 191 - 198
Sulfite oxidase (SO) deficiency is biochemically characterized by tissue accumulation and high urinary excretion of sulfite, thiosulfate and S-sulfocysteine.... 
Sulfite oxidase deficiency | Sulfite | Thiosulfate | Reactive species | Rat brain | Bioenergetic dysfunction | MOLYBDENUM-COFACTOR DEFICIENCY | OXIDATIVE STRESS | LIPID-PEROXIDATION | RAT CEREBRAL-CORTEX | HUMAN SKELETAL-MUSCLE | CYTOCHROME-C-OXIDASE | MITOCHONDRIAL CREATINE-KINASE | REACTIVE OXYGEN | ACID IN-VITRO | GENETICS & HEREDITY | NITRIC-OXIDE | Amino Acid Metabolism, Inborn Errors - complications | Electron Transport - drug effects | Rats, Wistar | Amino Acid Metabolism, Inborn Errors - physiopathology | Electron Transport - genetics | Male | Brain - physiology | Sulfite Oxidase - deficiency | Sulfites - pharmacology | Brain - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Amino Acid Metabolism, Inborn Errors - genetics | Oxidation-Reduction - drug effects | Electron Transport - physiology | Homeostasis - drug effects | Energy Metabolism - physiology | Sulfite Oxidase - genetics | Brain Diseases, Metabolic - genetics | Rats | Thiosulfates - pharmacology | Brain Diseases, Metabolic - metabolism | Sulfites - metabolism | Thiosulfates - metabolism | Brain - drug effects | Animals | Sulfite Oxidase - metabolism | Brain - pathology | Brain Diseases, Metabolic - etiology | Energy Metabolism - drug effects | Oxidases | Sulfites | Metabolites | Molybdenum compounds | Creatine kinase | Nitric oxide | Physiological aspects | Homeostasis
Journal Article