ArticleEuropean journal of human genetics : EJHG2019
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.
Article in European journal of human genetics : EJHG, 2019. 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
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
4 citing papers in PubMed.
- Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study.Molecular genetics and metabolism reports · 2026Article
- Persistent Neutropenia and Atopy in an Adolescent: A Subtle Presentation of Phosphoglucomutase 3 Deficiency.Cureus · 2025Article
- Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations.Journal of mother and child · 2020Review
- Inborn errors of immunity associated with characteristic phenotypes.Jornal de pediatriaReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
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.