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Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.
Ornithine transcarbamylase (OTC) deficiency, an X-linked inborn error of the urea cycle, leads to the accumulation of ammonia, causing neurologic deficits. Clinical management for the patients with OTC deficiency is frustrating and requires a burdensome medical regimen, since they may have impairmen...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Korean Academy of Medical Sciences
1998
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054473/ https://www.ncbi.nlm.nih.gov/pubmed/9610619 |