Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy
Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). Accumulation of their corresponding keto-acids leads to encephalopathy if not treated in time....
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2016-10-01
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| coleção: | Pediatrics and Neonatology |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S1875957213002350 |
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