The goal of this research unit is to bridge the gap between molecular changes in rare inborn metabolic disorders and clinical research using state-of-the-art cell-based models and high-resolution mass spectrometry. By creating omics profiles from patient-derived samples and applying cutting-edge functional studies, we translate clinical patient data into validated insights on enzyme dysfunction, substrate accumulation, and biomarker discovery. These newly gained insights will expand and refine our understanding of disease biology.
