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Table 2 Results of laboratory analyses conducted for infants included in the case series

From: Characterization of tracheobronchomalacia in infants with hypophosphatasia

Laboratory Measure Patients Who Received Asfotase Alfa as Part of the ENB-010-10 Study Patient Who Received Asfotase Alfa Through Compassionate-Use Program Patient Who Received Asfotase Alfa as Licensed Medication Post-Authorization
Patient 1 Patient 2 Patient 3 Patient 4 Patient 5
Alkaline phosphatase at birth (normal range: 82–383) Undetectably low 14 U/L 18 U/L Undetectably low <5 U/L
Calcium (normal range: 2.25–2.74) 3.0 mmol/L at birth 2.9 mmol/L at 4 weeks 1.3 mmol/L (ionized, normal range: 0.85–1.45) at 8 days 2.9 mmol/L at 4 weeks 3.0 mmol/L at birth
Phosphorus (normal range) NA 4.3 mg/dL (2.5–4.5) at 4 weeks 6.8 mg/dL (2.5–4.5) at 8 days 2.4 mmol/L (1.8–2.3) at 4 weeks 2.3 mmol/L (1.8–2.3) at birth
PLP (B6) (normal range) NA >2000 ng/mL (11.8–68.3) at 1 day NA; PEA 413 μmol/L (0–300) 4740 ng/mL (11.8–68.3) at 4 weeks 3940 nmol/L (20–140)
PPi (normal range: 1.33–5.71) 9.5 μmol/L at 4 weeks 10.4 μmol/L at 5 weeks 7.4 μmol/L at 7 weeks 9.5 μmol/L at 4 weeks NA
ALPL mutation Homozygous: c.147 G > A, (p.Gly491Arg) secondary to uniparental disomy [12] Compound heterozygous: c.668 G > A (p.Arg223Gln) and c.1171 C > T (p.Arg391Cys) Compound heterozygous: c.876_872delAGGGGACinsT and c.650 T > C (p.Val217Ala) Homozygous: c.1336 G > A (p.Ala466Thr) Homozygous: c.400_401delinsCA, (p.Thr134His)
  1. NA Not available, PEA Phosphoethanolamine, PLP Pyridoxal-5-phosphate, PPi Inorganic pyrophosphate