Table 1 Urine samples used for MALDI-TOF/TOF analysis of oligosaccharides randomly divided into a training set and a blind validation set

Fucosidosis

α-L-Fucosidase

+++ (Fucosyl OS)

3

2

5

Aspartylglucosaminuria

N-Aspartyl-β-glucosaminidase

+++ (Glycoasparaginyl OS)

2

1

3

Sialidosis

α-D-Neuraminidase

+++ (Sialyl OS)

4

4

8

GM1 gangliosidosis

β-D-galactosidase

+++ (Galactosyl OS)

5

7

12

Sandhoff disease

N-acetyl-β-D-hexasominidase A and B

± (GlcNAc OS)

4

2

6

α-mannosidosis

α-D-mannosidase

+++ (Mannosyl OS)

7

4

11

Mucolipidose type II

N-Acetylglusaminyl 1-Phospho-transferase

ND (Sialyl OS)

6

1

7

Mucolipidose type III

N-Acetylglusaminyl 1-Phospho-transferase

ND (Sialyl OS)

4

2

6

Unaffected (control)

none

ND

6

30

36

Total

41

53

94