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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