Associated Papers
Causes of mortality in the congenital disorders of glycosylation.
Alharbi H et al.
Molecular Genetics and Metabolism, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
Sharma V et al.
The Journal of Biological Chemistry, 2011
Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.
Erlandson A et al.
Human Genetics, 2001
Select a paper to view details