ArticleJournal of human genetics2015
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.Orphanet journal of rare diseases · 2020Pooled it
- Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report.BMC pediatrics · 2025Article
- The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.Orphanet journal of rare diseases · 2024Article
- Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.Human mutation · 2021Article
- N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.Scientific reports · 2018Article
- Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.Journal of human genetics · 2018Article
- N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.Molecular genetics and metabolism reports · 2016Article
- Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.Expert review of endocrinology & metabolism · 2016Article
- A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.Journal of human genetics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error regarding the urea cycle, however, its diagnosis is important as it can be effectively treated by N-carbamylglutamate. We evaluated a patient with NAGS deficiency who harbored two novel NAGS mutations and who showed excellent responsiveness during 1 year of N-carbamylglutamate treatment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.