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Hyperammonemia, type III

Known as: aga deficiency, N-Acetylglutamate Synthetase Deficiency, N acetyl glutamate synthetase deficiency 
An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized… Expand
National Institutes of Health

Papers overview

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Review
2016
Review
2016
The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of eight enzyme… Expand
Highly Cited
2011
Highly Cited
2011
BACKGROUND & AIMS Hyperammonemia is a frequent side-effect of valproic acid (VPA) therapy, which points to an imbalance between… Expand
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Review
2011
Review
2011
  • J. Häberle
  • Therapeutics and clinical risk management
  • 2011
  • Corpus ID: 2788248
N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea… Expand
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Highly Cited
2010
Highly Cited
2010
The objective of this study was to determine developmental changes in mRNA and protein levels for N-acetylglutamate synthase… Expand
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Highly Cited
2005
Highly Cited
2005
OBJECTIVES To set up a novel simple, sensitive, and reliable ion-pairing HPLC method for the synchronous separation of several… Expand
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Review
2004
Review
2004
The concentration of arginine (an essential amino acid for neonates) in sow's milk is remarkably low, and thus endogenous… Expand
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Highly Cited
2004
Highly Cited
2004
SummarySix loci coding for arginine biosynthetic enzymes in Pseudomonas aeruginosa strain PAO were identified by enzyme assay… Expand
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Review
2004
Review
2004
N-Acetylglutamate synthetase (NAGS, EC 2.3.1.1) deÐciency (McKusick 237310) catalyses the synthesis of N-acetylglutamate (NAG… Expand
2004
2004
SummaryN-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea-cycle disease. Its clinical presentation… Expand
2003
2003
N-acetylglutamate synthase (NAGS) is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate, an essential… Expand
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