Research & Innovation
Publications

CAD mutations and uridine-responsive epileptic encephalopathy.

#2017

#BRAIN

PMU Authors
Johannes Koch, Johannes A. Mayr, Christian Rauscher, Ingrid Bader, Cornelia Betzler, Wolfgang Sperl, Saskia Wortmann

All Authors
Johannes Koch, Johannes A. Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Reka Kovacs-Nagy, Karlien L M Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M Strom, Wolfgang Sperl, Thomas Meitinger, Saskia Wortmann, Tobias B Haack

Journal association
BRAIN

Abstract

Keywords

METABOLISM, OROTIC ACIDURIA, INBORN-ERRORS

Latest Publication

#2025

#Original Article

Andreas Brand, Tsubasa Tashiro, Inga Kröger, Noriaki Maeda, Isabella Klöpfer-Krämer, Andrea Dietrich, Johannes Gabel, Peter Augat Up and down – The impact of calcaneal fracture on medial gastrocnemius fascicle behavior and ankle biomechanics during heel-rise performance

#2025

#Original Article

Manela Glarcher, Andreas Dirksen, Roland Essl-Maurer, Simon Krutter, Elke Keinath, Daniela Lehwald, Christoph von Dach, Nancy Carter Long-term Role Sustainability of Advanced Practice Nurses, Qualitative research; Advanced practice nurse; Leadership support; Professional networks; Role sustainability;

#2025

#Review article

Kathrin Julia Pann, Verena-Katrin Buchner, Roland Essl-Maurer, Tobias Bacher, Manela Glarcher, Andre Ewers International competencies of nurses with advanced practice in anesthesia nursing, Advanced practice nursing; Advanced practice registered nurses; Anesthesia nursing; Clinical competence; Literature review; Nurse anesthetists; Scope of practice;

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Paracelsus Medical University (PMU) Research & Innovation Publications

CAD mutations and uridine-responsive epileptic...