Zeitschriftenartikel
Mayr, J. A.; Zimmermann, F. A.; Fauth, C.; Bergheim, C.; Meierhofer, D.; Radmayr, D.; Zschocke, J.; Koch, J.; Sperl, W.: Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. The American Journal of Human Genetics
89 (6), S. 792 - 797 (2011)