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THE DIFFICULTY IN THE DIAGNOSIS OF PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY IN 6 HETEROZYGOUS FEMALES WITH NOVEL PDHA1 MUTATIONS

#2011

#JOURNAL OF INHERITED METABOLIC DISEASE

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

All Authors
Wolfgang Sperl, P. Freisinger, R. Trollmann, Johannes Koch, Christian Rauscher, FA Zimmermann, B. Volkmar, U. Ahting, B. Rolinski, Johannes A. Mayr

Journal association
JOURNAL OF INHERITED METABOLIC DISEASE

Abstract

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#2025

#Short comment / notes

J. Koch, K. Steinbruecker, G. Kluger, S. Knasmueller, E. Trinka Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study, EPILEPSY; Drug Resistance; Automated spike detection;

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Paracelsus Medical University (PMU) Research & Innovation Publications

THE DIFFICULTY IN THE DIAGNOSIS OF PYRUVATE...