𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Enzyme activity in classical and variant forms of maple syrup urine disease

✍ Scribed by Joseph Dancis; Joel Hutzler; Selma E. Snyderman; Rody P. Cox


Book ID
118537006
Publisher
Elsevier Science
Year
1972
Tongue
English
Weight
596 KB
Volume
81
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of twelve novel mutations
✍ Marco Henneke; Nadine Flaschker; Christoph Helbling; Martina MΓΌller; Peter Schad πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 39 KB

Paalman Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain Ξ±-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1 Ξ± (BCKDHA), E1 Ξ² (BCKDHB) and E2 (DBT) are known to r