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MeSH:(Carbamoyl-Phosphate Synthase (Ammonia))

1.Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency.

Haiyan ZHANG ; Yujie LANG ; Kaihui ZHANG ; Xiaoying LI ; Yi LIU ; Zhongtao GAI

Chinese Journal of Medical Genetics 2018;35(6):848-851

2.Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.

Rihwa CHOI ; Hyung Doo PARK ; Mina YANG ; Chang Seok KI ; Soo Youn LEE ; Jong Won KIM ; Junghan SONG ; Yun Sil CHANG ; Won Soon PARK

Annals of Laboratory Medicine 2017;37(1):58-62

3.The relationship of CPS-I, OCT and hepatic encephalopathy.

Yong HE ; Hao-lan SONG ; Gui-xing LI ; Jin XU ; Bao-xiu GAO ; Ting YU ; Shu-qiang TANG

Chinese Journal of Hepatology 2010;18(9):699-702

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