P2293
P5166
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathyRestoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamateRecurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyRole of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiencyN-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.Mutation analysis in patients with N-acetylglutamate synthase deficiency.Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency.Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency.A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
P921
Q28215960-412D5AC1-1CC0-48ED-B816-40C0C528E4D3Q28287537-17638091-AC7D-47D5-97BA-32FEA65F66CDQ34039333-0D55D348-124F-4009-95B9-7772D9215AB0Q36925224-A278965A-623D-4941-81F6-5EE086621B3DQ37610751-C0AA6888-696D-4C52-AABA-876A6B2A0602Q37937440-2E1CCFDF-7340-44F9-A098-4F3CF3E13858Q38939679-1F40457C-C345-4B7F-A6C5-F8F8BD678EF0Q41196498-BE2E69DE-3245-4406-88CB-EFE12F8E723EQ44446087-F1D562EF-9360-4925-9CC7-502B281A1AD9Q44647361-65213B7D-3FBA-4D0D-9D5F-E3A98A2D1E15Q45268160-04766AE9-B1A9-46D4-9146-505BDAAC6DA5Q45966285-91D1F7CD-577A-46D2-A6A1-A6D2EEB41A6EQ46406721-0D513F11-F039-4910-B41D-EFE55AED90B7Q46461713-69E22E66-E685-4326-9109-60B673F4BE93Q48592023-6EA94770-F1CA-492A-B1F6-903FB123984EQ49130754-DBC66057-7F05-4014-8946-8996F7E4B34FQ49827796-79A87B04-4CFD-4406-A1D1-8E06EF2CD578Q58603802-1C0BE8EF-C701-49D9-A580-4E6D1715DAEB
P921
description
N-acetylglutamate synthase (NA ...... der leading to hyperammonaemia
@en
name
N-Acetylglutamate synthase deficiency
@en
déficit en N-Acétylglutamate synthase
@fr
type
label
N-Acetylglutamate synthase deficiency
@en
déficit en N-Acétylglutamate synthase
@fr
altLabel
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency
@en
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
@en
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD
@en
N-Acetylglutamate Synthetase Deficiency
@en
NAGSD
@en
Nags Deficiency
@en
prefLabel
N-Acetylglutamate synthase deficiency
@en
déficit en N-Acétylglutamate synthase
@fr
P486
P6366
P1748
P2293
P2888
P2892
P4229
P486
P492
P5270
MONDO:0009377
P6366
2780519758
P7464
n-acetylglutamate-synthase-deficiency