Research & Innovation
Publications
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
PMU Authors
Johannes A. Mayr, Franz Zimmermann, Johannes Koch, Wolfgang Sperl
All Authors
Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz Zimmermann, Thomas Scheffner, Tobias B Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl
Journal association
AMERICAN JOURNAL OF HUMAN GENETICS
Abstract
Keywords
MUTATIONS, BASAL GANGLIA DISEASE, WERNICKE ENCEPHALOPATHY, CARRIER, BIOTIN