Barbara Plecko
Department of Pediatrics
University Hospital Graz
Austria
Name/email consistency: high
- Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W. Hum. Mutat. (2007)
- Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Plecko, B., Hikel, C., Korenke, G.C., Schmitt, B., Baumgartner, M., Baumeister, F., Jakobs, C., Struys, E., Erwa, W., Stöckler-Ipsiroglu, S. Neuropediatrics (2005)
- Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. Plecko, B., Hoeger, H., Jakobs, C., Struys, E., Stromberger, C., Leschnik, M., Muehl, A., Stoeckler-Ipsiroglu, S. J. Inherit. Metab. Dis. (2005)