Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples
- 7 February 1991
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 14 (6) , 932-937
- https://doi.org/10.1007/bf01800477
Abstract
Molybdenum cofactor deficiency is characterized by the absence of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase, the three known enzymes in man that require the cofactor for their act...Keywords
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