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Molybdenum cofactor deficiency

✍ Scribed by Georgianne L. Arnold; Carol L. Greene; J. Patrick Stout; Stephen I. Goodman

Book ID: 117162623
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 379 KB
Volume: 123
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(05)80961-8

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Molybdenum cofactor deficiency is an autosomal recessive disorder characterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifestations are indistinguishable from those of isolated sulfite oxidase deficiency: craniofaci