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...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-10-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.992156/full |