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Arginase I deficiency: Severe Infantile Presentation with hyperammonemia: more common than reported?
Enzyme defects of the urea cycle typically present with significant hyperammonemia and its associated toxicity, in the first few months of life. However, arginase I (ARG1) deficiency, a rare autosomal recessive disorder, has classically been the exception. ARG1 deficiency usually presents later in l...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3171515/ https://ncbi.nlm.nih.gov/pubmed/21802329 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.06.025 |
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