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Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study
Isovaleric acidemia (IVA) is an organic acid disease caused by a deficiency of isovaleryl-CoA dehydrogenase. Deficiency of this enzyme leads to accumulation of organic acids, such as isovalerylcarnitine and isovalerylglycine. The proposed IVA treatments include leucine restriction and l-carnitine an...
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| 發表在: | Mol Genet Metab Rep |
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| Main Authors: | , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6282653/ https://ncbi.nlm.nih.gov/pubmed/30547004 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.03.002 |
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