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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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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Assuntos: | |
| Acesso em linha: | 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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