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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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Hlavní autoři: Muelly, Emilie R., Moore, Gregory J., Bunce, Scott C., Mack, Julie, Bigler, Don C., Morton, D. Holmes, Strauss, Kevin A.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2013
Témata:
On-line přístup: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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