Molybdenum cofactor deficiency associated with Dandy-Walker malformation
β Scribed by G. Pintos-Morell; M. A. Naranjo; M. Artigas; M. Roge; M. Rodes; M. J. Coll; J. L. Johnson; K. V. Rajagopalan
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 133 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
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
The authors present two siblings suffering from Lennox-Gastaut syndrome. One of them also had the Dandy-Walker malformation. His seizures were difficult to control with anticonvulsant drugs, and somnolence and cerebellar ataxia easily occurred during administration of low dose anticonvulsants. On th