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MRI Features of 4 Female Patients with Pyruvate Dehydrogenase E1 alpha Deficiency
Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. The majority of patients with pyruvate dehydrogenase deficiency have a defect in the E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3129538/ https://ncbi.nlm.nih.gov/pubmed/21723463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2011.02.003 |
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