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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: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
2013
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| 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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