Isolated sulfite oxidase deficiency: Review of two cases in one family

This publication has 17 references indexed in Scilit:

• Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme
  Proceedings of the National Academy of Sciences, 1998
• Molecular Basis of Sulfite Oxidase Deficiency from the Structure of Sulfite Oxidase
  Cell, 1997
• An HPLC assay for detection of elevated urinaryS‐sulphocysteine, a metabolic marker of sulphite oxidase deficiency
  Journal of Inherited Metabolic Disease, 1994
• Molybdenum-Cofactor Deficiency: An Easily Missed Cause of Neonatal Convulsions
  Neuropediatrics, 1993
• Sulfite oxidase deficiency
  Neurology, 1989
• Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: Application to xanthinuria and the Lesch-Nyhan syndrome
  Biochemical Medicine, 1983
• Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.
  Proceedings of the National Academy of Sciences, 1980
• Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?
  Journal of Inherited Metabolic Disease, 1978
• Sulfite Oxidase Deficiency
  New England Journal of Medicine, 1977
• Sulfite oxidase deficiency: Studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-l-cysteine, sulfite, and thiosulfate
  Biochemical Medicine, 1967