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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