1. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?. Issue 5 (3rd February 2015) Authors: Wamelink, Mirjam M. C.; Ramos, Ruben J. J. F.; den van Elzen, Annette P. M.; Ruijter, George J. G.; Bonte, Ramon; Diogo, Luisa; Garcia, Paula; Neves, Nelson; Nota, Benjamin; Haschemi, Arvand; Tavares de Almeida, Isabel; Salomons, Gajja S. Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 889 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Paroxysmal exercise‐induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Issue 7 (19th April 2016) Authors: Olgiati, Simone; Skorvanek, Matej; Quadri, Marialuisa; Minneboo, Michelle; Graafland, Josja; Breedveld, Guido J.; Bonte, Ramon; Ozgur, Zeliha; van den Hout, Mirjam C.G.N.; Schoonderwoerd, Kees; Verheijen, Frans W.; van IJcken, Wilfred F.J.; Chien, Hsin Fen; Barbosa, Egberto Reis; Chang, Hsiu‐Chen... Journal: Movement disorders Issue: Volume 31:Issue 7(2016) Page Start: 1041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗