Phong Nguyen

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.

This study shows that localized loss of G6pc1 in liver zones causes local glycogen accumulation but not systemic disease, highlighting organ-wide compensation for metabolic homeostasis.

This study identifies UFMylation of PDH as a regulator of mitochondrial metabolism, showing it enhances pyruvate oxidation and TCA cycle activity.

This study identifies NUDT5 as a regulator of purine metabolism and thiopurine sensitivity by interacting with PPAT, independent of its known enzymatic activity.

The paper shows that LACTB2 in the liver regulates mitochondrial maturation to coordinate carbohydrate metabolism with brain development in mice.

The paper introduces a web application for exploring metabolomics data from plasma and fibroblasts of patients with inborn errors of metabolism, enabling analysis of metabolic deviations and relationships.