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. 2019 Jun 21;5(2):24. doi: 10.3390/ijns5020024

Table 1.

Newborn screening results, recalls and confirmed diagnosis.

LSD Total Screened Positive NBS Recall Rate Patient Undergo to Confirmatory Testing Patients with Confirmed Disorder Pseudo Deficit VUS Carrier Status
Gaucher 112,446 28 0.03 7 7 0 0 0
Pompe 112,446 28 0.03 18 8 7 2 1
Fabry 112,446 23 0.02 11 8 1 2 0
MPS I 112,446 52 0.05 26 2 20 2 2
Multiple LSD 112,446 7 0.01 0
Total 112,446 138 0.12 62 25 28 6 3