From: Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
Analyte
Sampling 1
Sampling 2
Normal range
Sialic acid (total)—urine
nmol/mol creatinine
68
69
31–69
Sialic acid (free) urine
60
57
7–21
Sialic acid (free) fibroblasts
nmol/mg protein
16
-
<1,3