Publications by authors named "Irena J Muffels"
Article Synopsis
- Inborn-Errors of Metabolism (IEM) are genetic disorders caused by mutations in genes related to metabolic pathways, with some lacking specific biochemical markers.
- Integrating next-generation sequencing (NGS), especially whole exome sequencing (WES), into IEM diagnostics enhances accuracy, supports genetic counseling, and broadens treatment options.
- For example, supplementing amino acids has shown positive effects on patients with deficiencies in aminoacyl-tRNA synthetases (ARSs), improving both biochemical and clinical outcomes.
