Paracelsus Medizinische Privatuniversität (PMU)

Research & Innovation
Publications

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

#2011
#AMERICAN JOURNAL OF HUMAN GENETICS

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