TY - JOUR U1 - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed) A1 - Sass, Jörn Oliver A1 - Vaithilingam, Jathana A1 - Gemperle-Britschgi, Corinne A1 - Delnooz, Cathérine C. S. A1 - Kluijtmans, Leo A. J. A1 - van de Warrenburg, Bart P. C. A1 - Wevers, Ron A. T1 - Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia JF - Metabolic Brain Disease KW - Canavan disease KW - Aminoacylase 1 KW - N-acylated amino acids KW - Movement disorder KW - Aspartoacylase KW - Dystonia Y1 - 2016 SN - 0885-7490 SS - 0885-7490 U6 - https://doi.org/10.1007/s11011-015-9778-6 DO - https://doi.org/10.1007/s11011-015-9778-6 PM - 26686503 VL - 31 IS - 3 SP - 587 EP - 592 PB - Springer US ER -