Additional file 1: of A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

Figure S1. A. Gesell developmental scale evaluated the proband as severely developmentally delayed. B. Urine creatine was significantly increased (0.805 mg/ml) in the proband (peak height 25,000, upper left) compared with the normal control (NC) value of 0.160 ± 0.177 mg/ml (peak height 3,200, below left). The internal standard peak is the reference for the test at right. C. Proton magnetic resonance spectroscopy (MRS), examination using a 3.0-T system on the brain showed normal brain creatine peak (left part) and brain MRI showed normal corpus callosum in the proband’s mother (right part). (TIF 5633 kb