Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17703373 |
Report patient with OCTN2 mutations/deficiency and N-acetylglutamate synthase deficiency. |
| 17421020 |
This is the first comprehensive report of 21 mutations that cause NAGS deficiency and of commonly found polymorphisms in the NAGS gene. |
| 12447942 |
The first mutation in NAGS has been reported in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes. |
| 15878741 |
Three novel mutations in the NAGS gene from the families affected by autosomal recessively inherited NAGS deficiency were described and characterized. |
| 17510757 |
case with genetically verified NAGS deficiency and neonatal onset of severe hyperammonaemia |
| 12594532 |
report two deleterious mutations within the NAGS gene found in two families with infants presenting with acute neonatal disease; finding confirms the genetic origin of NAGS deficiency |
| 12754705 |
first report of mutation analysis in a series of families affected with deficiency of NAGS |
| 16321554 |
The biochemical properties of purified recombinant human and mouse NAGS-M and NAGS-C were determined in this study with the goal of better understanding the role of the variable domain in NAGS function. |
| 12459178 |
identification and cloning of the human NAGS gene, determination of its genomic structure, verification of the catalytic activity of the purified recombinant enzyme, and the distribution of NAGS mRNA in human tissues |
| 15714518 |
3 mutations in 2 families with NAGS deficiency revealed deleterious effects on NAGS affinity for substrates & the rate of catalysis. |
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