Metabolic landscape of inborn errors of metabolism
Min Ni, Ling Cai, Hieu Vu, Hongli Chen, Margaret Cervantes, Wen Gu, Lea Abou Haidar, Zheng Wu, Chunxiao Pan, Feng Cai, Phong T. Nguyen, Yan Jin, Jin Wang, Bookyung Ko, Chendong Yang, , Ralph J. DeBerardinis
This study uses metabolomics to analyze 474 subjects with inborn errors of metabolism, identifying genotype-specific metabolic alterations and providing diagnostic tools and a database of metabolomic features.
medRxiv · Oct 29, 2026 · PreprintGenetic & Genomic Medicine