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Argininosuccinate Lyase Deficiency – Argininosuccinic Aciduria and Beyond
The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCD), a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia. Argininos...
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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/PMC3073162/ https://ncbi.nlm.nih.gov/pubmed/21312326 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30289 |
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