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Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations
BACKGROUND: In 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. METHODS: We examined the clinical characteristics, prognosis, and gene muta...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9574338/ https://www.ncbi.nlm.nih.gov/pubmed/36263152 http://dx.doi.org/10.3389/fped.2022.992156 |