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1 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
Ann Lab Med.2017;37(1):58-62.   Published online 2016 November 1     DOI: http://dx.doi.org/10.3343/alm.2017.37.1.58
      
2 Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency
Dae Eun Choi, Kang Wook Lee, Young Tai Shin, Ki Ryang Na
J Korean Med Sci.2012;27(5):556-559.   Published online 2012 April 25     DOI: http://dx.doi.org/10.3346/jkms.2012.27.5.556
      

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