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Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male
Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected p...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716892/ https://www.ncbi.nlm.nih.gov/pubmed/19669271 http://dx.doi.org/10.1007/s12072-008-9078-x |