Isolated sulfite oxidase deficiency: review of two cases in one family (Q28145819)

2

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B Marriage

3

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T N Graf

4

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K E Coyne

5

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K V Rajagopalan

6

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I M MacDonald

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism

7

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language of work or name

English

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publication date

October 1999

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published in

Ophthalmology

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volume

106

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issue

10

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page(s)

1957-61

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cites work

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Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?

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Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor

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Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients

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Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions

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An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency

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Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome

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Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.

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Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase

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Molecular Basis of the Biological Function of Molybdenum. The Relationship between Sulfite Oxidase and the Acute Toxicity of Bisulfite and SO 2

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Genetic effects of bisulfite (sulfur dioxide)

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The toxicity of sulphite. I. Long-term feeding and multigeneration studies in rats

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Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

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Antenatal diagnosis of molybdenum cofactor deficiency

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Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies

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