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Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
Decreased function of human mitochondrial branched chain alpha-ketoacid dehydrogenase complex results in branched chain ketoacidemia or maple syrup urine disease. Activity of this multienzyme complex varies from 0 to approximately 15% of wild type branched chain alpha-ketoacid dehydrogenase complex...
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| Publicado no: | J Clin Invest |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1985
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC423615/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3980729/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI111783 |
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