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Analysis of urinary α-AASA for patients with mutations in ALDH7A1 and age-matched controls. Number of controls measured: age <6 months = 95; age 6–12 months = 61; age >12 months = 93. Patient F2 had two measurements of urinary α-AASA while under 6 months of age and Patient F16 had α-AASA measured once when <6 months and once when 6–12 months of age.
