Forschung & Innovation
Publikationen

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

#2011

#AMERICAN JOURNAL OF HUMAN GENETICS

PMU Autor*innen
Johannes A. Mayr, Franz Zimmermann, Johannes Koch, Wolfgang Sperl

Alle Autor*innen
Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz Zimmermann, Thomas Scheffner, Tobias B Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl

Fachzeitschrift
AMERICAN JOURNAL OF HUMAN GENETICS

Kurzfassung

Keywords

MUTATIONS, BASAL GANGLIA DISEASE, WERNICKE ENCEPHALOPATHY, CARRIER, BIOTIN

Weitere Publikationen

#2026

#Originalarbeit

Newton Cho, Ankit I. Mehta, Aditya Vedantam, C. Rory Goodwin, Uzondu F. Agochukwu, Lukas Grassner, Aria Nouri, Bizhan Aarabi, Jefferson R. Wilson, Nathan Evaniew Techniques for Cervical Laminoplasty, SURGICAL TECHNIQUE; CERVICAL LAMINOPLASTY; Motion preservation;

#2026

#Originalarbeit

Alexander Schorb, Nadine Purrer, Peter Seidinger, Johanna Roßmann, Linda Mantovani, Simon Kohl, Wolfgang Aichhorn, Helmut Schöller, Günter Schiepek Validation of the Sports Process Quetionaire (SPQ) for monitoring the mental health of athletes and load control using the Synergetic Navigation System (SNS)

#2026

#Buch

Günter Schiepek, Helmut Schöller, Clemens Fartacek, Wolfgang Aichhorn, Alexander Schorb Human Dynamics in Psychotherapy and Related Fields

Zurück zur Übersicht

Paracelsus Medizinische Privatuniversität Forschung & Innovation Publikationen

Thiamine pyrophosphokinase deficiency in...