1. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015) Authors: Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd... Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Issue 5 (17th March 2015) Authors: Hu, Liyan; Pandey, Amit V.; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean‐Marc; Häberle, Johannes Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 815 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗