1. Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Issue 5 (20th December 2014) Authors: Huemer, M.; Bürer, C.; Ješina, P.; Kožich, V.; Landolt, M. A.; Suormala, T.; Fowler, B.; Augoustides‐ Savvopoulou, P.; Blair, E.; Brennerova, K.; Broomfield, A.; De Meirleir, L.; Gökcay, G.; Hennermann, J.; Jardine, P.; Koch, J.; Lorenzl, S.; Lotz‐Havla, A. S.; Noss, J.; Parini, R. Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 957 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis. (May 2017) Authors: Haberlandt, E.; Ensslen, M.; Gruber-Sedlmayr, U.; Plecko, B.; Brunner-Krainz, M.; Schimmel, M.; Schubert-Bast, S.; Neirich, U.; Philippi, H.; Kurleman, G.; Tardieu, M.; Wohlrab, G.; Borggraefe, I.; Rostásy, K. Journal: European journal of paediatric neurology Issue: Volume 21:Number 3(2017:May) Page Start: 457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Safety and recommendations for vaccinations of children with inborn errors of metabolism. (November 2021) Authors: Hady-Cohen, R.; Dragoumi, P.; Barca, D.; Plecko, B.; Lerman-Sagie, T.; Zafeiriou, D. Journal: European journal of paediatric neurology Issue: Volume 35(2021) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. VP26.11: Prenatal diagnosis of Aicardi syndrome: a case report. (15th October 2020) Authors: Eisnecker, K.; Csapo, B.; Gellen, J.; Greimel, P.; Nanda, M.; Taumberger, N.; Kasprian, G.; Plecko, B.; Speicher, I.; Verheyen, N.; Klaritsch, P. Journal: Ultrasound in obstetrics & gynecology Issue: Volume 56(2020)Supplement 1 Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗