Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances. Dietary management enables survival and reduces risk of acute crises. Liver transplantation...

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Main Authors: Muelly, Emilie R., Moore, Gregory J., Bunce, Scott C., Mack, Julie, Bigler, Don C., Morton, D. Holmes, Strauss, Kevin A.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2013
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3613932/
https://ncbi.nlm.nih.gov/pubmed/23478409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI67217
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