@article{SassVaithilingamGemperleBritschgietal.2016, author = {J{\"o}rn Oliver Sass and Jathana Vaithilingam and Corinne Gemperle-Britschgi and Cath{\´e}rine C. S. Delnooz and Leo A. J. Kluijtmans and Bart P. C. van de Warrenburg and Ron A. Wevers}, title = {Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia}, series = {Metabolic Brain Disease}, volume = {31}, number = {3}, publisher = {Springer US}, issn = {0885-7490}, doi = {10.1007/s11011-015-9778-6}, pages = {587 -- 592}, year = {2016}, language = {en} }