Research & Innovation
Publications

Thiamine-pyrophospholdnase-deficiency: Clinical and genotypic spectrum in 5 patients

#2013

#MITOCHONDRION

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

All Authors
P. Freisinger, Johannes A. Mayr, T. Scheffner, C. Makowski, Johannes Koch, U. Ahting, FA Zimmermann, K. Schlachter, H. Prokisch, Wolfgang Sperl

Journal association
MITOCHONDRION

Abstract

Latest Publication

#2025

#Abstract

Valentin Fischill-Neudeck, Antje van der Zee-Neuen, Margitta B. Beil-Hildebrand Strengthening Professional Health Literacy: A Theory-Based Approach to Empower Nursing Practice

#2025

#Original Article

Margaux Delporte, Johan Verbeeck, Isabella Brambilla, Georg Zimmermann, Geert Molenberghs, Rima Nabbout, Dravet syndrome, REGISTRY; RARE DISEASES; DRAVET SYNDROME; Natural history;

#2025

#Editorial

Eunkyeong Oh, Alberto Lucchini, Peter Nydahl Personalized approaches to ICU Distress

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Paracelsus Medical University (PMU) Research & Innovation Publications

Thiamine-pyrophospholdnase-deficiency: Clinical...