Cargando…
Imaging in Classic Form of Maple Syrup Urine Disease: A Rare Metabolic Central Nervous System
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. The condition gets its name from the distinctive sweet odour of affected infants’ urine. MSUD is caused by a deficiency of the branched-chain α-ketoacid dehydrogenase enzyme complex, lead...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2013
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3775146/ https://www.ncbi.nlm.nih.gov/pubmed/24049754 http://dx.doi.org/10.4103/2249-4847.116411 |