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Attempt at therapy in sulphite oxidase deficiency

  • Case Report
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Journal of Inherited Metabolic Disease

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References

  • Irrevere, F., Mudd, S. H., Heizer, W. D. and Laster, L. Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses and abnormal urinary excretion ofS-sulfo-l-cysteine, sulfite and thiosulfate.Biochem. Med. 1 (1967) 187–217

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  • Shih, V. E., Abroms, I. F., Johnson, J. L., Carney, M., Mandell, R., Robb, R. M., Cloherty, J. P. and Rajagolpalan, K. V. Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.N. Engl. J. Med. 297 (1977) 1022–1028

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Authors and Affiliations

  1. Laboratorie de Biochimie Medicale B, Hôpital Necker Enfants Malades, 75743, Paris Cedex 15, France

    Ph. Tardy, Ph. Parvy, C. Charpentier & P. Kamoun

  2. Clinique de Genetique Medicale, Hôpital Necker Enfants Malades, 75743, Paris Cedex 15, France

    J. -P. Bonnefont & J. -M. Saudubray

Authors
  1. Ph. Tardy
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  2. Ph. Parvy
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  3. C. Charpentier
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  4. J. -P. Bonnefont
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  5. J. -M. Saudubray
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  6. P. Kamoun
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Tardy, P., Parvy, P., Charpentier, C. et al. Attempt at therapy in sulphite oxidase deficiency. J Inherit Metab Dis 12, 94–95 (1989). https://doi.org/10.1007/BF01805537

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  • DOI: https://doi.org/10.1007/BF01805537

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