Katja Steinbrucker
Salzburg, Austria
Last Updated: 09/26/2026
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Found 12 publications
Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.
Journal: Molecular metabolism
Published: May 13, 2026
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study.
Journal: Seizure
Published: February 18, 2025
Maternal Anti-PF4 Antibodies as Cause of Neonatal Stroke.
Journal: The New England journal of medicine
Published: February 12, 2025
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: July 23, 2024
Vaccine safety in children with genetically confirmed mitochondrial disease.
Journal: Immunology letters
Published: March 11, 2024
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Journal: Neuropediatrics
Published: January 05, 2023
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual.
Journal: Neuropediatrics
Published: October 12, 2022
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
Journal: Genes
Published: October 03, 2022
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Journal: Annals of neurology
Published: August 23, 2021
Showing 1-12 of 12
Last Updated: 09/26/2026