Research & Innovation
Publications

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

#2011

#AMERICAN JOURNAL OF HUMAN GENETICS

PMU Authors
Johannes A. Mayr, Franz Zimmermann, Johannes Koch, Wolfgang Sperl

All Authors
Johannes A. Mayr, Franz Zimmermann, Christine Fauth, Christa Bergheim, David Meierhofer, Doris Radmayr, Johannes Zschocke, Johannes Koch, Wolfgang Sperl

Journal association
AMERICAN JOURNAL OF HUMAN GENETICS

Abstract

Keywords

PROTEIN, ESCHERICHIA-COLI, GENE, MUTATIONS, BIOSYNTHESIS, ENZYMES, CLONING, SYNTHASE, RESPIRATORY-CHAIN, PYRUVATE-DEHYDROGENASE COMPLEX

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#2026

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Paracelsus Medical University (PMU) Research & Innovation Publications

Lipoic acid synthetase deficiency causes...