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Table 3 Clinical chemistry and metabolism assays

From: Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Assay

Result

Reference range

Creatinine

0.89 g/l

0.12–1.12 g/l

Docosanoic acid (C22)

45.8 nmol/ml

15–113 nmol/ml

Tetracosanoic acid (C24)

41.6 nmol/ml

12–94 nmol/ml

Hexacosanoic acid (C26)

0.4 nmol/ml

0.2–1.6 nmol/ml

C24/C22

0.91

0.55–1.05

C26/C22

0.009

0.005–0.029

Phytanic acid

3.2 nmol/ml

0.3–31 nmol/ml

Aryl sulfatase A

0.808 mu/mg

0.375–1.815

Aryl sulfatase B

1.654 mu/mg

0.722–3.749