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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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Mei Xiong, Mingwu Chen
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-10-01
Subjects:	argininosuccinate synthetase gene novel mutations citrullinemia type I tandem mass spectrometry whole-exome sequencing
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2022.992156/full