Saskia Wortmann

23PUBLICATIONS

149CO-AUTHORS

Medical biochemistry - proteins and peptides (incl. medical proteomics)Nutrigenomics and personalised nutritionInfant and child healthPacific Peoples youth and familyCardiology (incl. cardiovascular diseases)

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Publications (23)

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|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

|Apr 15, 2024

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> Variants.

Saskia B Wortmann, Rene G Feichtinger, Lucia Abela

|Mar 27, 2024

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.

Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann

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Frequent Collaborators

Johannes A Mayr

René G Feichtinger

Holger Prokisch

Ayman W El-Hattab

Mohammed A Al-Muhaizea

1 joint publications

Samantha A Schrier Vergano

Bader Alhaddad

Tooba Momen

Erdmann Rapp

Marcello Scala

Frequent Collaborators

Johannes A Mayr

René G Feichtinger

Holger Prokisch

Ayman W El-Hattab