1. High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome. Issue 5 (May 2021) Authors: Molema, F.; Haijes, H.A.; Janssen, M.C.; Bosch, A.M.; van Spronsen, F.J.; Mulder, M.F.; Verhoeven-Duif, N.M.; Jans, J.J.M.; van der Ploeg, A.T.; Wagenmakers, M.A.; Rubio-Gozalbo, M.E.; Brouwers, M.C.G.J.; de Vries, M.C.; Fuchs, S.; Langendonk, J.G.; Rizopoulos, D.; van Hasselt, P.M.; Williams, M. Journal: Clinical nutrition Issue: Volume 40:Issue 5(2021) Page Start: 3622 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?. (July 2018) Authors: de Rooy, R.L.P.; Halbertsma, F.J.; Struijs, E.A.; van Spronsen, F.J.; Lunsing, R.J.; Schippers, H.M.; van Hasselt, P.M.; Plecko, B.; Wohlrab, G.; Whalen, S.; Benoist, J.F.; Valence, S.; Mills, P.B.; Bok, L.A. Journal: European journal of paediatric neurology Issue: Volume 22:Number 4(2018:Jul.) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Pyridoxine-dependent epilepsy (PDE): Diagnostic and therapeutic queries. (June 2017) Authors: Lunsing, R.J.; van Spronsen, F.J.; Bok, L.A.; Struys, E.A.; van Karnebeek, C.D. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗