Markey McNutt

Metabolic landscape of inborn errors of metabolism

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.

An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism

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.

Impaired ureagenesis due to arginine-insensitive N-acetylglutamate synthase

The paper investigates the role of L-arginine in NAGS activation and ureagenesis by studying NAGS knockout mice and a human patient with a related mutation.