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Table 1 Activity of acid hydrolases in our patient compared to normal values

From: Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

  Activities in affected patients Range of normal values
Hexosaminidase 3434 nkat/L 148–337 nkat/L
Hexosaminidase A 207 nkat/L 24–44 nkat/L
α-L-Fucosidase 1195 nkat/L 10–170nkat/L
β-D-Glucuronidase 1416 nkat/L 15–93 nkat/L
β-Mannosidase 975 nkat/L 50–210 nkat/L