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Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.
Two newborn infants, male (A) and female (B), with lethal hyperammonaemia are described in the same family. In both, symptoms started on the second day of life. Lethargy and hypotonia were the most prominent initial findings and were followed by convulsions and coma. In both, blood ammonia levels ro...
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| Main Authors: | , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1978
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1545134/ https://ncbi.nlm.nih.gov/pubmed/206210 |
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