Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations
BackgroundIn this study, we evaluated the clinical characteristics, prognosis, and gene mutations of five children with citrullinemia type I (CTLN1) diagnosed in our department and identified two novel ASS1 gene mutations.MethodsWe examined the clinical characteristics, prognosis, and gene mutations...
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| Principais autores: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Frontiers Media S.A.
2022-10-01
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| Serier: | Frontiers in Pediatrics |
| Fag: | |
| Online adgang: | https://www.frontiersin.org/articles/10.3389/fped.2022.992156/full |
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