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Disease on EC 1.8.3.1 - sulfite oxidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis, Lactic
Clinical approach to inherited metabolic disorders in neonates.
arylsulfatase (type i) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
aspartate-ammonia ligase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Asthma
A simulated patient study to evaluate community pharmacist assessment, management and advice giving to patients with asthma.
Adverse reactions to food additives.
Brain Diseases
Bezafibrate prevents mitochondrial dysfunction, antioxidant system disturbance, glial reactivity and neuronal damage induced by sulfite administration in striatum of rats: Implications for a possible therapeutic strategy for sulfite oxidase deficiency.
Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.
Sulfite oxidase deficiency - An unusual late and mild presentation.
Carcinoma, Hepatocellular
SUOX is a promising diagnostic and prognostic biomarker for hepatocellular carcinoma.
Cardiovascular Diseases
Nutrition education in supermarkets: an unsuccessful attempt to influence knowledge and product sales.
Congenital Disorders of Glycosylation
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Conjunctivitis, Allergic
The management of ocular allergy in community pharmacies in the United Kingdom.
Craniocerebral Trauma
Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients.
Cystic Fibrosis
Strong anion determination in biological fluids by capillary electrophoresis for clinical diagnostics.
Dystonia
A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency.
Ectopia Lentis
Congenital ectopia lentis. A Danish national survey.
Genetics of ectopia lentis.
Ehlers-Danlos Syndrome
Genetics of ectopia lentis.
Encephalomalacia
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Proton Magnetic Resonance Spectroscopy And Diffusion-weighted Imaging In Isolated Sulfite Oxidase Deficiency.
Epilepsy
Epilepsy in inborn errors of metabolism.
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
Neonatal epilepsies: Clinical management.
Genetic Diseases, Inborn
Structural insights into sulfite oxidase deficiency.
The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H2S metabolism.
Glycogen Storage Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Homocystinuria
Absence of hepatic molybdenum cofactor. An inborn error of metabolism associated with lens dislocation.
Congenital ectopia lentis. A Danish national survey.
Genetics of ectopia lentis.
[Inherited metabolic disorders of the transsulfuration pathway]
Hyperekplexia
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
Hyperglycinemia, Nonketotic
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Epilepsy in inborn errors of metabolism.
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Hypersensitivity
Sulfite hypersensitivity. A critical review.
Hypophosphatasia
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Hypoxia-Ischemia, Brain
??mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency.
Clinical and imaging observations in isolated sulfite oxidase deficiency.
Teaching NeuroImages: Early imaging of sulfite oxidase deficiency mimics severe hypoxic ischemic encephalopathy.
Very early neuroimages of sulfite oxidase deficiency mimicing severe hypoxic ischemic encephalopathy in a neonate.
Infections
Availability of Sexually Transmitted Infection Screening and Expedited Partner Therapy at Federally Qualified Health Centers in Michigan.
Shopper cards data and storage practices for the investigation of an outbreak of Shiga-toxin producing Escherichia coli O157 infections.
The Ethics of Everyday Life in the Midst of a Pandemic.
Intellectual Disability
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Spherophakia associated with molybdenum cofactor deficiency.
Leigh Disease
[Sulfite oxidase deficiency presenting as Leigh syndrome]
Lens Subluxation
Genetics of ectopia lentis.
Spherophakia associated with molybdenum cofactor deficiency.
Leukodystrophy, Globoid Cell
Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement.
Leukoencephalopathies
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
Lissencephaly
Neonatal epilepsies: Clinical management.
Liver Diseases
Clinical approach to inherited metabolic disorders in neonates.
Lysosomal Storage Diseases
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Marfan Syndrome
Congenital ectopia lentis. A Danish national survey.
Genetics of ectopia lentis.
Menkes Kinky Hair Syndrome
Epilepsy in inborn errors of metabolism.
Metabolic Diseases
Isolated sulfite oxidase deficiency.
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.
Metabolism, Inborn Errors
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Microcephaly
Severe isolated sulfide oxidase deficiency with a novel mutation.
Mitochondrial Diseases
Epilepsy in inborn errors of metabolism.
Muscle Hypotonia
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.
Neoplasms
Accessibility and Barriers to Oncology Appointments at 40 National Cancer Institute-Designated Comprehensive Cancer Centers: Results of a Mystery Shopper Project.
High sulfite oxidase expression could predict postoperative biochemical recurrence in patients with prostate cancer.
Sulfite Oxidase Is a Novel Prognostic Biomarker of Advanced Gastric Cancer.
Nervous System Diseases
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.
The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.
Neurologic Manifestations
Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients.
Peroxisomal Disorders
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Clinical approach to inherited metabolic disorders in neonates.
Epilepsy in inborn errors of metabolism.
persulfide dioxygenase deficiency
Evidence that Thiosulfate Inhibits Creatine Kinase Activity in Rat Striatum via Thiol Group Oxidation.
Prostatic Neoplasms
High sulfite oxidase expression could predict postoperative biochemical recurrence in patients with prostate cancer.
Psychomotor Disorders
Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies.
pyruvate carboxylase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Carboxylase Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
pyruvate dehydrogenase (nadp+) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Dehydrogenase Complex Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Respiratory Insufficiency
2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency.
Seizures
2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency.
Bezafibrate prevents mitochondrial dysfunction, antioxidant system disturbance, glial reactivity and neuronal damage induced by sulfite administration in striatum of rats: Implications for a possible therapeutic strategy for sulfite oxidase deficiency.
Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies.
Disorders of amino acid metabolism associated with epilepsy.
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Higher susceptibility of cerebral cortex and striatum to sulfite neurotoxicity in sulfite oxidase-deficient rats.
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.
Pyridoxine-dependent epilepsy with elevated urinary ?-amino adipic semialdehyde in molybdenum cofactor deficiency.
Severe isolated sulfide oxidase deficiency with a novel mutation.
Spherophakia associated with molybdenum cofactor deficiency.
Sulfite oxidase deficiency - An unusual late and mild presentation.
The sulfite oxidase Shopper controls neuronal activity by regulating glutamate homeostasis in Drosophila ensheathing glia.
Sexually Transmitted Diseases
Availability of Sexually Transmitted Infection Screening and Expedited Partner Therapy at Federally Qualified Health Centers in Michigan.
Spasms, Infantile
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
Stomach Neoplasms
Sulfite Oxidase Is a Novel Prognostic Biomarker of Advanced Gastric Cancer.
Stroke
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.
sulfite oxidase deficiency
2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency.
??mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency.
A compound heterozygote case of isolated sulfite oxidase deficiency.
A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase.
A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency.
A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method.
Absence of hepatic molybdenum cofactor. An inborn error of metabolism associated with lens dislocation.
Ampicillin interference with test for sulfite oxidase deficiency.
An inborn error of metabolism presenting as hypoxic-ischemic insult.
Antenatal diagnosis of molybdenum cofactor deficiency.
Bezafibrate prevents mitochondrial dysfunction, antioxidant system disturbance, glial reactivity and neuronal damage induced by sulfite administration in striatum of rats: Implications for a possible therapeutic strategy for sulfite oxidase deficiency.
Biological applications of a turn-on bioluminescent probe for monitoring sulfite oxidase deficiency in vivo.
Ceruloplasmin, copper, selenium, iron, zinc, and manganese levels in normal and sulfite oxidase deficient rat plasma: effects of sulfite exposure.
Clinical and imaging observations in isolated sulfite oxidase deficiency.
Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement.
Clinical approach to inherited metabolic disorders in neonates.
Congenital ectopia lentis. A Danish national survey.
Cysteine-S-sulfate: brain damaging metabolite in sulfite oxidase deficiency.
Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies.
Disorders of amino acid metabolism associated with epilepsy.
Distribution, metabolism and toxicity of inhaled sulfur dioxide and endogenously generated sulfite in the respiratory tract of normal and sulfite oxidase-deficient rats.
Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: Potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency.
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.
Elucidating the catalytic mechanism of sulfite oxidizing enzymes using structural, spectroscopic, and kinetic analyses.
Epilepsy in inborn errors of metabolism.
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Genetics of ectopia lentis.
Health effects of atmospheric sulfur dioxide and dietary sulfites. The fallacy of typology.
Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system.
Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.
Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.
Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
Isolated sulfite oxidase deficiency.
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Isolated sulfite oxidase deficiency: a founder mutation.
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
Isolated sulfite oxidase deficiency: MR imaging features.
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.
Isolated sulfite oxidase deficiency: review of two cases in one family.
Kinetic results for mutations of conserved residues H304 and R309 of human sulfite oxidase point to mechanistic complexities.
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.
Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients.
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase.
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.
Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.
Molybdenum cofactor deficiency: metabolic link between taurine and s-sulfocysteine.
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1 and MOCS2.
Molybdenum Trioxide Nanoparticles with Intrinsic Sulfite Oxidase Activity.
Neurologic injury in isolated sulfite oxidase deficiency.
Neuropathologic changes in a case of sulfite oxidase deficiency.
Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Oxygen reactivity of mammalian sulfite oxidase provides a concept for the treatment of sulfite oxidase deficiency.
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency.
Prenatal brain disruption in isolated sulfite oxidase deficiency.
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.
Proton Magnetic Resonance Spectroscopy And Diffusion-weighted Imaging In Isolated Sulfite Oxidase Deficiency.
Pyridoxine-dependent epilepsy with elevated urinary ?-amino adipic semialdehyde in molybdenum cofactor deficiency.
Screening for sulfite oxidase deficiency with urinary thiosulfate/sulfate ratios determined by anion chromatography.
Screening for sulfite oxidase deficiency.
Severe isolated sulfide oxidase deficiency with a novel mutation.
Simultaneous occurrence of xanthine oxidase and sulfite oxidase deficiency. A molybdenum dependent inborn error of metabolism?
Spherophakia associated with molybdenum cofactor deficiency.
Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.
Strong anion determination in biological fluids by capillary electrophoresis for clinical diagnostics.
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.
Structural insights into sulfite oxidase deficiency.
Structures and reaction pathways of the molybdenum centres of sulfite-oxidizing enzymes by pulsed EPR spectroscopy.
Sulfite increases lipoperoxidation and decreases the activity of catalase in brain of rats.
Sulfite leads to neuron loss in the hippocampus of both normal and SOX-deficient rats.
Sulfite Oxidase Activity of Cytochrome c: Role of Hydrogen Peroxide.
Sulfite oxidase deficiency - An unusual late and mild presentation.
Sulfite oxidase deficiency in a newborn.
Sulfite oxidase deficiency in man: demonstration of the enzymatic defect.
Sulfite oxidase deficiency.
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.
Sulfite oxidase deficiency: a high risk factor in SO2, sulfite, and bisulfite toxicity?
Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients.
Teaching NeuroImages: Early imaging of sulfite oxidase deficiency mimics severe hypoxic ischemic encephalopathy.
The central active site arginine in sulfite oxidizing enzymes alters kinetic properties by controlling electron transfer and redox interactions.
The effect of inhaled sulfur dioxide and systemic sulfite on the induction of lung carcinoma in rats by benzo[a]pyrene.
The G473D Mutation Impairs Dimerization and Catalysis in Human Sulfite Oxidase.
The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H2S metabolism.
The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models.
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.
Very early neuroimages of sulfite oxidase deficiency mimicing severe hypoxic ischemic encephalopathy in a neonate.
Visual evoked potentials in normal and sulfite oxidase deficient rats exposed to ingested sulfite.
[Inherited metabolic disorders of the transsulfuration pathway]
[Isolated sulfite oxidase deficiency]
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
[Sulfite oxidase activity deficiency caused by cofactor molybdenum deficiency: A case of early severe encephalopathy].
[Sulfite oxidase deficiency presenting as Leigh syndrome]
transaldolase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Urolithiasis
Strong anion determination in biological fluids by capillary electrophoresis for clinical diagnostics.
Weill-Marchesani Syndrome
Congenital ectopia lentis. A Danish national survey.
Genetics of ectopia lentis.
xanthine dehydrogenase deficiency
Biochemical investigation of a child with molybdenum cofactor deficiency.
xanthine oxidase deficiency
Successful treatment of molybdenum cofactor deficiency type A with cPMP.