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Imaging Findings in Maple Syrup Urine Disease: A Case Report
Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder that affects branched-chain amino acid (BCAA) metabolism. It is characterized by accumulation of BCAAs and corresponding branched-chain keto acids of leucine, isoleucine, and valine in plasma, urine, and cerebrospinal fluid. Leu...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982476/ https://www.ncbi.nlm.nih.gov/pubmed/29899783 http://dx.doi.org/10.4103/JPN.JPN_38_17 |