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Table 1 Newborns with a positive second-tier screening for citrin deficiency

From: Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

No. First DBS citrulline (μM) Mutation analysis Diagnosis
1 17.31 c.851_854del /IVS6+5 G>A NICCD
2 15.5 c.851_854del /IVS6+5 G>A NICCD
3 18.89 c.851_854del He Negative
4 18.36 c.851_854del He Negative
5 17.16 c.851_854del He Negative
6 15.06 c.851_854del He Negative
7 13.76 c.1638_1660dup23 He Negative
8 5.03 c.851_854del He Negative
9 5.01 c.851_854del He Negative
  1. NICCD: neonatal intrahepatic cholestasis caused by citrin deficiency.