Saskia Wortmann

25PUBLICATIONS
176CO-AUTHORS
Metabolic medicineNeurogeneticsMedical biochemistry - proteins and peptides (incl. medical proteomics)Nutrigenomics and personalised nutritionInfant and child health
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Publications (25)

|Sep 09, 2026
Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.

|Aug 06, 2026
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|Oct 20, 2025
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence.

Jennifer Kahlhofer, Nikolas Marchet, Kristian Zubak

|Jun 26, 2024
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda

|May 25, 2024
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.

Oliver Heath, Emma Hammerl, Anna Spitzinger

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Frequent Collaborators

9 joint publications

Johannes A Mayr

4 joint publications

René G Feichtinger

2 joint publications

Aneal Khan

2 joint publications

Bruce H Cohen