Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

by Saadet Mercimek-Mahmutoglu, Dawn Corderio, Laura Nagy, Carly Mutch, Melissa Carter, Eduard Struys, Lianna Kyriakopoulou
Published 2014-01-01

Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism.

by Yuan Yan Sin, Laurel L Ballantyne, Kamalika Mukherjee, Tim St Amand, Lianna Kyriakopoulou, Andreas Schulze, Colin D Funk
Published 2013-01-01

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

by Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews
Published 2019-11-01

Strategies to rescue the consequences of inducible arginase-1 deficiency in mice.

by Laurel L Ballantyne, Yuan Yan Sin, Tim St Amand, Joshua Si, Steven Goossens, Lieven Haenebalcke, Jody J Haigh, Lianna Kyriakopoulou, Andreas Schulze, Colin D Funk
Published 2015-01-01