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Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy
INTRODUCTION: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder...
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| Publié dans: | SAGE Open Med Case Rep |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
SAGE Publications
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4857352/ https://ncbi.nlm.nih.gov/pubmed/27489649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2050313X14546348 |
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