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Mini-Review: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Short chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Originally described with a relatively severe phenotype, most patients are now diagnosed through newb...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2008
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2720545/ https://ncbi.nlm.nih.gov/pubmed/18977676 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.09.007 |
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