Pub. Date : 2018 Oct 18
PMID : 30337552
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or decreased production of N-acetylglutamate (NAG) due to either decreased NAGS gene expression or defective NAGS enzyme. | N-acetylglutamic acid | N-acetyl-alpha-glucosaminidase | Homo sapiens |