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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....

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Vydáno v:Exp Ther Med
Hlavní autoři: Xu, Jun, Zhang, Aimin, Huang, Furong
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2020
Témata:
On-line přístup: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
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