Forschung & Innovation
Publikationen
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
PMU Autor*innen
Johannes A. Mayr, Franz Zimmermann, Johannes Koch, Wolfgang Sperl
Alle Autor*innen
Johannes A. Mayr, Franz Zimmermann, Christine Fauth, Christa Bergheim, David Meierhofer, Doris Radmayr, Johannes Zschocke, Johannes Koch, Wolfgang Sperl
Fachzeitschrift
AMERICAN JOURNAL OF HUMAN GENETICS
Kurzfassung
Keywords
PROTEIN, ESCHERICHIA-COLI, GENE, MUTATIONS, BIOSYNTHESIS, ENZYMES, CLONING, SYNTHASE, RESPIRATORY-CHAIN, PYRUVATE-DEHYDROGENASE COMPLEX