Cargando…

Production and characterization of murine models of classic and intermediate maple syrup urine disease

BACKGROUND: Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency. Current treatments are not satisfactory and require new approaches to com...

Descripción completa

Detalles Bibliográficos
Autores principales: Homanics, Gregg E, Skvorak, Kristen, Ferguson, Carolyn, Watkins, Simon, Paul, Harbhajan S
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1448208/
https://www.ncbi.nlm.nih.gov/pubmed/16579849
http://dx.doi.org/10.1186/1471-2350-7-33