Associated Papers
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K et al.
Jci Insight, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S et al.
Cell Reports. Medicine, 2023
37257447 (PubMed )
Supplement: mmc1.pdf
Anthropometric Phenotype of Patients with PMM2-CDG.
Lipiński P et al.
Children (basel, Switzerland), 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Witters P et al.
Orphanet Journal of Rare Diseases, 2021
33632285 (PubMed )
Supplement: 13023_2021_1751_MOESM1_ESM.xlsx › Raw_data
PMM2 intronic branch-site mutations in CDG-Ia.
Vuillaumier-Barrot S et al.
Molecular Genetics and Metabolism, 2006
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
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