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Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report
The aim of the present report was to describe the clinical presentation, diagnosis, and treatment of a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a neonate, specifically, a 3 day-old female who visited Hunan Provincial People's Hospital due to anorexia and lethargy for 1 day....
Shranjeno v:
| izdano v: | Exp Ther Med |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
D.A. Spandidos
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7282193/ https://ncbi.nlm.nih.gov/pubmed/32537019 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.8717 |
| Oznake: |
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