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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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Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: 2013
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Acesso em linha: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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