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Citrullinaemia and isolated sulphite oxidase deficiency in two siblings

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Journal of Inherited Metabolic Disease

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References

  • Brown GK, Scholem RD, Croll HB et al (1989) Sulfite oxidase deficiency: Clinical, neuroradiologic, and biochemical features in two new patients.Neurology 39: 252–257.

    Google Scholar 

  • Irreverre F, Mudd SH, Heizer WD et al (1967) Sulfite oxidase deficiency: Studies of a patient with mental retardation, dislocated lenses, and abnormal urinary excretion ofS-sulfo-l-cysteine, sulfite and thiosulfate.Biochem Med 1: 187–199.

    Google Scholar 

  • Vianey-Liaud C, Desjacques P, Gaulme J et al (1988) A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.J Inher Metab Dis 11: 425–426.

    Google Scholar 

  • Wadman SK, Cats BP, de Bree PK (1983) Sulfite oxidase deficiency and the detection of urinary sulfite.Eur J Pediatr 141: 62–63.

    Google Scholar 

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Vilarinho, L., Alves, J.R., Dorche, C. et al. Citrullinaemia and isolated sulphite oxidase deficiency in two siblings. J Inherit Metab Dis 17, 638–639 (1994). https://doi.org/10.1007/BF00711610

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  • DOI: https://doi.org/10.1007/BF00711610

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