2Pekkala S,Martinez AI,Barcelona B,et al.Understanding carbamoyl-phosphate synthetase I(CPS1) deficiency by using expression studies and structure-based analysis[J].Hum Mutat,2010,31(7):801. 被引量：1
3Chace DH,Kalas TA.A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing[J].Clin Biochem,2005,38(4):296-309. 被引量：1
4Nissenkorn A,Michelson M,Ben-Ieev B,et al.Inborn errors of metabolism:a cause of abnormal brain development[J].Neurology,2001,56(10):1265-1272. 被引量：1
