Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency
Article in Journal of Inherited Metabolic Disease (May 2024)
The most recent citing publications are shown below. View all 5 publications that cite this research output on Dimensions.
Article in Journal of Inherited Metabolic Disease (May 2024)
Article in Nature Reviews Disease Primers (September 2023)
Article in Molecular Genetics and Metabolism (September 2023)