A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
- 1 December 1988
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 11 (4) , 425-426
- https://doi.org/10.1007/bf01800433
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosisJournal of Inherited Metabolic Disease, 1985
- Measurement of Xanthine Oxidase Activity in Some Human TissuesEnzyme, 1983
- 2-Mercaptoethanesulfonate-cysteinedisulfide excretion following the administration of 2-mercaptoethanesulfonate—a pitfall in the diagnosis of sulfite oxidase deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Sulfite Oxidase DeficiencyNew 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 thiosulfateBiochemical Medicine, 1967