Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
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Suggested guidelines for the diagnosis and management of urea cycle disordersDrug treatment of inborn errors of metabolism: a systematic reviewDevelopment and validation of COMPASS: clinical evidence of orphan medicinal products - an assessment tool.Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.Carglumic acid promotes apoptosis and suppresses cancer cell proliferation in vitro and in vivo.Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyPharmacologic stimulation of cytochrome P450 46A1 and cerebral cholesterol turnover in mice.The discovery of medicines for rare diseasesClinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery.Hyperammonemic encephalopathy in an adenocarcinoma patient managed with carglumic acidFirst report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).Challenges in optimizing sample preparation and LC-MS/MS conditions for the analysis of carglumic acid, an N-acetyl glutamate derivative in human plasma.Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency.Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.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
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P2860
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Role of carglumic acid in the ...... lglutamate synthase deficiency
@en
Role of carglumic acid in the ...... glutamate synthase deficiency.
@nl
type
label
Role of carglumic acid in the ...... lglutamate synthase deficiency
@en
Role of carglumic acid in the ...... glutamate synthase deficiency.
@nl
prefLabel
Role of carglumic acid in the ...... lglutamate synthase deficiency
@en
Role of carglumic acid in the ...... glutamate synthase deficiency.
@nl
P2860
P356
P1476
Role of carglumic acid in the ...... lglutamate synthase deficiency
@en
P2093
Johannes Häberle
P2860
P304
P356
10.2147/TCRM.S12703
P577
2011-08-02T00:00:00Z