Publications by authors named "Alex C Edwards"
J Inherit Metab Dis
November 2024
Article Synopsis
- * NAGS deficiency (NAGSD) is a rare urea cycle disorder that can be effectively treated with N-carbamylglutamate (NCG), and the study focused on factors that could contribute to the rarity of NAGSD, such as low genomic variation and alternative NAG sources.
- * Researchers discovered a novel regulatory element in the NAGS gene and identified new regulatory elements in other urea cycle genes, which
