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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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Bibliographic Details
Main Authors: Jain, Aditi, Jagdeesh, K., Mane, Ranoji, Singla, Saurabh
Format: Artigo
Language:Inglês
Published: Medknow Publications & Media Pvt Ltd 2013
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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