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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...

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Detalles Bibliográficos
Autores principales: Kathait, Anjaneya S., Puac, Paulo, Castillo, Mauricio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
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