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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Erez, Ayelet, Sreenath Nagamani, Sandesh C., Lee, Brendan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Mynediad Ar-lein: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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