ArticleTranslational pediatrics2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Article in Translational pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.BMC medical genomics · 2025Article
- A Machine Learning Approach to Differentiate Congenital and Transient Neonatal Hyperammonemia: A 10-Year Case Series.Cureus · 2025Article
- Continuous renal replacement therapy for severe transient hyperammonemia in a preterm infant weighing 1120 g: A case report.The Journal of international medical research · 2025Article
- Hyperammonemia and inborn errors of metabolism.Translational pediatrics · 2024Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: This study was conducted to analyze the genetic spectrum and clinical characteristics of infantile hyperammonemia. Methods: Between January 2016 and June 2020, we retrospectively enrolled infantile hyperammonemia patients with definitive genetic diagnosis at the Children's Hospital of Fudan University. Based on the age of hyperammonemia onset, patients were grouped into neonatal and post-neonatal subgroups to compare their genetic and clinical features. Results: Collectively, 136 pathogenic or likely pathogenic variants of the 33 genes were identified. Fourteen genes were reported with hyperammonemia (42%, 14/33), with Conclusions: There were significant differences in the genetic spectrum, clinical features, clinical course, and outcomes between infants with different hyperammonemia onset ages.
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