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Pilot Study of Mitochondrial Bioenergetics in Subjects with Acute Porphyrias
1 BACKGROUND AND AIMS: The acute porphyrias are characterized by defects in heme synthesis, particularly in the liver. In some affected patients, there occurs a critical deficiency in a regulatory heme pool within hepatocytes that leads to up-regulation of 5-aminolevulinic acid [ALA] synthase-1, whi...
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| 發表在: | Mol Genet Metab |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6864263/ https://ncbi.nlm.nih.gov/pubmed/31153822 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.05.010 |
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