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Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics
Maple syrup urine disease, an inherited disorder of metabolism, is characterised by deficient activity of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD) enzyme, resulting in an accumulation of branched-chain amino acids. While it is classically diagnosed by the means of a neonatal...
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| Publicado no: | Cureus |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cureus
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7489313/ https://ncbi.nlm.nih.gov/pubmed/32944429 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.9706 |
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