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Table 2 Comparisons of the level of C5DC and GA and the relative frequency of c.1244-2 A > C in the GA1 patients between NBS and clinical diagnose

From: Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

 

C5DC (µmol/L)

GA (mmol/mol Cr)

c.1244-2 A > C (n/N, %)

NBS patients

2.16 ± 1.04

553.14 ± 342.25

26/36, 72.22

Clinical patients

1.01 ± 1.06

332.32 ± 273.55

19/35, 54.28

T or χ2

3.23

2.054

2.46

P

0.003

0.049

0.117

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172