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Table 2 Biochemical and molecular results in the 8 studied patients

From: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Patient Sex Age of onset Hex-A activity
(μmol/l/h)
Gene Exon Mutation Type
1 M 4 months 389.9 GNPTAB 13 p.R587X Reported
2 M Prenatally NA GNPTAB 13 p.R587X Reported
3 M At birth 672 GNPTAB 19 p.L1168QfsX5 Reported
4 F At birth 651.1 GNPTAB 19 p.L1168QfsX5 Reported
5 M NA 500.4 GNPTAB 19 p.L1168QfsX5 Reported
6 F At birth 702 GNPTAB 19 p.L1168QfsX5 Reported
7 M Prenatally 290 GNPTAB 19 p.L1168QfsX5 Reported
8 F At birth 263 GNPTAB 19 p.T1163KfsX2 Novel