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Table 1 Sialic acid in urine and fibroblasts

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

nmol/mol creatinine

60

57

7–21

Sialic acid (free) fibroblasts

nmol/mg protein

16

-

<1,3