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Table 1 Detection results of MS/MS and biochemical testing in the patient

From: Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

Testing time MS/MS analysis in dried blood spots Biochemical testing
Citrulline (5.5–30 μmol/L) Citrulline/Arginine (0.35–15) Citrulline/Phenylalanine (0.12–0.83) Arginine (1–50 μmol/L) Blood ammonia (10–47 μmol/L) Total bilirubin (5.1–19 μmol/L) Direct bilirubin (0–6.8 μmol/L) AFP (ng/ml)
2015.9.21a 90.05 46.18 1.17 1.95     
2015.10.9 89.87 6.58 2.26 13.65     
2015.10.19 88.14 4.72 2.82 18.69 70 142 15.6 6508.14
2016.8.26 118.24 3.9 2.56 30.3 49 4.2 0.9 2.37
2016.10.10 87.66 4.8 1.9 18.25 33    
2016.11.8 81.25 3.52 2.25 23.05     
2017.8.4 71.82 5.19 1.37 13.85 29 6.2 1.6 <1.3
2018.9.7 120.99 3.4 1.45 35.63 45 3.2 2.1  
  1. aNewborn screening results