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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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| 主要な著者: | , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2013
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| 主題: | |
| オンライン･アクセス: | 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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