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Maple syrup urine disease decompensation misdiagnosed as a psychotic event
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine. Classic MSUD often presents in post-natal periods, at times before newborn screening results, and is treated wi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218201/ https://www.ncbi.nlm.nih.gov/pubmed/35756860 http://dx.doi.org/10.1016/j.ymgmr.2022.100886 |