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Diagnosis of APRT deficiency was often made late with impaired renal function. (A) Repartition of patients depending on their age when diagnosis of APRT deficiency was made. Data are provided for the 53 patients described in Table 1. (B) Repartition of patients depending on renal function at diagnosis and last follow-up. Data are provided for the 38 patients described in Table 2. eGFR, estimated GFR by MDRD formula.
