Associated Papers
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V et al.
Journal of Inherited Metabolic Disease, 2025
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.
Pascoal C et al.
Frontiers in Immunology, 2024
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Görlacher M et al.
Molecular Genetics and Metabolism Reports, 2020
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Slaba K et al.
Frontiers in Genetics, 2020
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