Browsing by Subject "NAGS-deficiency"

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A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

Dercksen, Marli; Duran, Marinus; Ijlst, Lodewijk; Kulik, Wim; Ruiter, Jos P.N. (Elsevier, 2016)

Background N-acetylglutamate synthase (NAGS) plays a key role in the removal of ammonia via the urea cycle by catalyzing the synthesis of N-acetylglutamate (NAG), the obligatory cofactor in the carbamyl phosphate synthetase ...