Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse

Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder. In a mu...

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Hlavní autoři: Kasten, Jennifer, Hu, Chuhong, Bhargava, Ragini, Park, Hana, Tai, Denise, Byrne, James A., Marescau, Bart, De Deyn, Peter P., Schlichting, Lisa, Grody, Wayne W., Cederbaum, Stephen D., Lipshutz, Gerald S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3800271/
https://ncbi.nlm.nih.gov/pubmed/23920045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.06.020
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