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Aspartylglucosaminuria is an inherited, lysosomal storage disease causing progressive decline in cognitive and motor functions. The aim of this study was to evaluate volumes of subcortical gray matter structures and white matter microstructure in aspartylglucosaminuria in adolescence in a longitudinal study for the first time.

jimd reports

White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother