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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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea: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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