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Imaging in Classic Form of Maple Syrup Urine Disease: A Rare Metabolic Central Nervous System
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. The condition gets its name from the distinctive sweet odour of affected infants’ urine. MSUD is caused by a deficiency of the branched-chain α-ketoacid dehydrogenase enzyme complex, lead...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Medknow Publications & Media Pvt Ltd
2013
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3775146/ https://ncbi.nlm.nih.gov/pubmed/24049754 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2249-4847.116411 |
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