1. Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability. (June 2017) Authors: Schiff, Manuel; Haack, Tobias; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Martinez, Aurora; Benoist, Jean-François; Heimer, Gali; Malicdan, May Christine V.; Ben-Zeev, Bruria; Blau, Nenad; Hoffmann, Geor... Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗