๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

โœ Scribed by Jochen Reiss; Rita Hahnewald


Book ID
102259698
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
304 KB
Volume
32
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Mutations in the molybdenum cofactor bio
โœ Jochen Reiss; Jean L. Johnson ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 284 KB

Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The resultant severe phenotype, which includes progressive neurological damage leading in most cases to early childhood death, results primari