N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
about
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachAugmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamateRecurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.A zebrafish model of hyperammonemia.A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthaseCarglumic acid promotes apoptosis and suppresses cancer cell proliferation in vitro and in vivo.Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyN-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.Liver involvement in urea cycle disorders: a review of the literature.Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets.Acute pediatric hyperammonemia: current diagnosis and management strategiesN-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
P2860
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P2860
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
N-acetylglutamate synthase def ...... athophysiology, and treatment.
@en
type
label
N-acetylglutamate synthase def ...... athophysiology, and treatment.
@en
prefLabel
N-acetylglutamate synthase def ...... athophysiology, and treatment.
@en
P2860
P356
P1476
N-acetylglutamate synthase def ...... pathophysiology, and treatment
@en
P2093
Nicholas Ah Mew
P2860
P304
P356
10.2147/TACG.S12702
P577
2011-08-24T00:00:00Z