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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