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Table 2 Clinical characteristics of biochemical detection index (n = 4), median (IQR)

From: Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report

Parameters

Measured values

Normal range

Calcium, median (IQR), mmol/L

1.42 (1.27–1.93)b

2.24–2.74

Albumin, median (IQR), g/L

36.30 (31.13–44.78)b

40–55

α-Amylase, median (IQR), U/L

14.50 (9.75–21.50)b

35–135

Globulin, median (IQR), g/L

14.50 (13.20–20.30)b

20–40

Creatinine, median (IQR), μmol/L

8.50 (6.50–9.75)b

18–97

Total serum protein, median (IQR), g/L

55.00 (45.13–60.08)b

65–85

Urine calcium, mmol/ L

0.2b

25 hydroxyvitamin D, nmol/L

70.20

50–150

Lactic dehydrogenase, median (IQR), U/L

591.50 (425.00–665.00)a

159–322

α-Hydroxybutyric dehydrogenase, median (IQR), U/L

497.50 (354.30–583.80)a

239–288

Creatine kinase isoenzyme, median (IQR), U/L

50.00 (32.50–66.75)a

0–37

Parathyroid hormone, pmol/L

21.3a

1.2–7.1

Phosphorus, mmol/L

1.99a

1.29–1.94

Total alkaline phosphatase, U/L

534a

118–390

Alkaline phosphatase, median (IQR), U/L

448.50 (335.80–775.00)a

118–390

Bone alkaline phosphatase, U/L

250a

0–200

  1. The table shows the statistically significant differences between measurement results and normal range (p < 0.05). a The values are higher than normal range. b The values are lower than normal range