Katja Steinbrücker

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

H. Prokisch, J. Hentschel, A. Gropman, 2022, Nutrients.

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome

S. Wortmann, J. Mayr, R. Feichtinger, 2022, Genes.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.