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Under recognition of late onset ornithine transcarbamylase deficiency
Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations...
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| Autores principales: | , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Group
2000
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1718304/ https://ncbi.nlm.nih.gov/pubmed/10799432 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.82.5.390 |
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