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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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Hlavní autoři: Erez, Ayelet, Sreenath Nagamani, Sandesh C., Lee, Brendan
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup: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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