Saskia Wortmann,

Is a pediatrician specialized in inherited metabolic disorders (IMDs) working at University Children’s Hospital Salzburg, Austria. Additionally she has a research affiliation with the Amalia Children’s Hospital Nijmegen, The Netherlands. Her focus is on the detection and characterization of (new) IMDs and their pathomechanism based treatment (e.g. fucose for GFUS-CDG, uridine for CAD-deficiency, riboflavine for ACAD9-deficiency).