Table 1

Newborns with a positive second-tier screening for citrin deficiency
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

NICCD: neonatal intrahepatic cholestasis caused by citrin deficiency.

Wang et al.

Wang et al. BMC Medical Genetics 2013 14:24   doi:10.1186/1471-2350-14-24

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