Ontology highlight
ABSTRACT:
SUBMITTER: Skvorak KJ
PROVIDER: S-EPMC2835204 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Skvorak Kristen J KJ Paul Harbhajan S HS Dorko Kenneth K Marongiu Fabio F Ellis Ewa E Chace Donald D Ferguson Carolyn C Gibson K Michael KM Homanics Gregg E GE Strom Stephen C SC
Molecular therapy : the journal of the American Society of Gene Therapy 20090512 7
Maple syrup urine disease (MSUD; OMIM 248600) is an inborn error of metabolism of the branched chain alpha-ketoacid dehydrogenase (BCKDH) complex that is treated primarily by dietary manipulation of branched-chain amino acids (BCAA). Dietary restriction is lifelong and compliance is difficult. Liver transplantation significantly improves outcomes; however, alternative therapies are needed. To test novel therapies such as hepatocyte transplantation (HTx), we previously created a murine model of i ...[more]