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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Frontiers Media S.A.,
2022-10-01T00:00:00Z.
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