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Table 1 Biochemical indicators of the proband suggest a probable diagnosis of GSD-Ia

From: Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Parameter Tested value Reference range Result
Glucose (mmol/L) 0.17↓ 3.6–6.1 Abnormal
CO2 (mmol/L) 7.1↓ 19–33 Abnormal
Sodium (mmol/L) 132.7 135–153  
Chlorinum (mmol/L) 89.2↓ 96–108 Abnormal
Calcium (mmol/L) 2.65 2–2.6  
Total bile acid (μmol/L) 16.7↑ 0–12 Abnormal
ALT (IU/L) 257.4↑ 7–56 Abnormal
AST (IU/L) 357.6↑ 0–40 Abnormal
Triglyceride (mmol/L) 5.74↑ 0.52–1.56 Abnormal
HDL (mmol/L) 2.01↑ 0.88–1.76 Abnormal
  1. Abbreviations: ALT alanine aminotransferase, AST aspartate aminotransferase, HDL high-density lipoproteins