Genetic and laboratory diagnostic approach in Niemann Pick disease type C

por McKay Bounford, K., Gissen, P.
Publicado 2014

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

por Davison, James E, Davies, Nigel P, Wilson, Martin, Sun, Yu, Chakrapani, Anupam, McKiernan, Patrick J, Walter, John H, Gissen, P, Peet, Andrew C
Publicado 2011

Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

por Leo, V. C., Morgan, N. V., Bem, D., Jones, M. L., Lowe, G. C., Lordkipanidzé, M., Drake, S., Simpson, M. A., Gissen, P., Mumford, A., Watson, S. P., Daly, M. E.
Publicado 2015

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

por Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.
Publicado 2018