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 |