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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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Bibliographische Detailangaben
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
Schlagworte:
Online Zugang: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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