1. Homozygous variegate porphyria presenting with developmental and language delay in childhood. (18th September 2013) Authors: Pinder, V. A. E.; Holden, S. T.; Deshpande, C.; Siddiqui, A.; Mellerio, J. E.; Wraige, E.; Powell, A. M. Journal: Clinical and experimental dermatology Issue: Volume 38:Number 7(2013) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bladder involvement in presentation of mitofusin-2 (MFN-2) associated sensory-motor axonal neuropathy. (June 2017) Authors: Konstantoulaki, E.; Nakou, V.; Wallace, D.; Wright, A.; Wraige, E.; Gowda, V. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Optic and/or auditory neuronopathy may be the first presentation of Brown-Vialetto-Van Laere syndrome. (June 2017) Authors: Nakou, V.; Rabiee, S.; Davidson, A.; Perera, L.; Heath, D.; Low, R.; Morrison, D.; Jiang, D.; Hedderly, T.; Lim, M.; Deshpande, C.; Josifova, D.; Wraige, E. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗