ArticleMolecular genetics and metabolism reports2022
Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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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.
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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.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate.Orphanet journal of rare diseases · 2026Review
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- Article
- Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.Frontiers in nutrition · 2024Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on pregnancy management and outcomes in a 27-year-old female patient with ornithine transcarbamylase (OTC) deficiency, the most common inherited enzyme deficiency in the urea cycle. Our patient was diagnosed during childhood after hyperammonemia associated with surgery and steroid treatment and was well-controlled with nitrogen scavenger treatment, low-protein diet, and L-citrulline supplementation.
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Registered trials
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