ArticleMolecular genetics and metabolism reports2021
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.
Article in Molecular genetics and metabolism reports, 2021. 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.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.Human genetics · 2026Article
- Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.Journal of human genetics · 2025Review
- Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.JIMD reports · 2025Article
- Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.Human mutation · 2024Observational
- N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.Journal of inherited metabolic disease · 2023Article
- Anthropometric Phenotype of Patients with PMM2-CDG.Children (Basel, Switzerland) · 2021Article
- The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.Frontiers in genetics · 2021Article
- Congenital Disorders of Glycosylation: What Clinicians Need to Know?Frontiers in pediatrics · 2021Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in Poland (1997 - 30th October 2020). MATERIAL AND
methodsThe diagnosis was based on serum Tf IEF which is performed at The Children's Memorial Health Institute (CMHI) in Warsaw. Based on demographic data, the prevalence of CDG among the Polish population in 2020 as well as the birth prevalence of CDG from 1990 to 2020 were estimated.
results39 patients (from 35 families) with molecularly confirmed CDG were diagnosed, including 17 (44%) patients (from 16 families) with PMM2-CDG. The c.422G > A, p.Arg141His and c.691G > A, p.Val231Met pathogenic missense variants were the most common identified PMM2 variants. Eleven other patients were diagnosed with CDG based on serum Tf IEF analysis only; the molecular analysis is pending. Ten CDG patients died, including 6 with PMM2-CDG, 1 with PGM1-CDG and 1 with DPAGT1-CDG. The prevalence of CDG in the Polish population was estimated at approximately 1 per million while that of PMM2 at 0.4 per million. The annual incidence of CDG was estimated at 0.013 per 100,000 people in 2020.
conclusionsA low frequence of CDG in our study could be underestimated.
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