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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...

詳細記述

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書誌詳細
主要な著者: Erez, Ayelet, Sreenath Nagamani, Sandesh C., Lee, Brendan
フォーマット: Artigo
言語:Inglês
出版事項: 2011
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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