Stefan Kölker

20PUBLICATIONS
94CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Epigenetics (incl. genome methylation and epigenomics)Autonomic nervous systemMedical biochemistry - lipidsGene expression (incl. microarray and other genome-wide approaches)
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Publications (20)

|Nov 05, 2025
Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Hannah Fels-Palesandro, Friederike Hörster, Dorothea Haas

|Oct 24, 2025
Trial Readiness: Understanding the Natural History of Rare Diseases.

Thomas Opladen, Ulrike Mütze, Florian Gleich

|May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.

Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl

|May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Nicole Hammann, Christian Staufner, Lea Dewi Schlieben

|May 16, 2025
Tension between the need for certainty and numerous uncertainties-A focus group study on various perspectives on a potential genomic newborn screening program in Germany.

Elena Sophia Doll, Julia Mahal, Karla Alex

|Mar 17, 2025
Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.

Andrew A M Morris, Jitka Sokolová, Markéta Pavlíková

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Frequent Collaborators

8 joint publications

Sven F Garbade

5 joint publications

Ulrike Mütze

4 joint publications

Georg F Hoffmann

3 joint publications

Christian Staufner