Ulrike Mütze

The paper develops a multi-dimensional framework for genomic newborn screening programs by defining criteria across clinical, diagnostic, therapeutic, and program management aspects.

This meta-analysis evaluates the impact of newborn screening on mortality and neurocognitive outcomes in classic isovaleric aciduria, finding reduced symptoms and mortality but not complete prevention of decompensation.

The paper develops dynamic whole-body models for infants to simulate metabolism and predict biomarker concentrations, showing they exceed newborn screening thresholds for isovaleric aciduria.