Last Updated: 09/26/2026
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Found 70 publications
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.
Journal: Science advances
Published: April 15, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.
Journal: Molecular genetics and metabolism
Published: February 03, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.
Journal: Biomolecules
Published: February 02, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
Journal: Molecular genetics and metabolism
Published: November 28, 2025
Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]".
Journal: Molecular genetics and metabolism
Published: October 15, 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025
Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.
Journal: BMC medical genomics
Published: May 28, 2025
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Journal: Molecular genetics and metabolism
Published: May 01, 2025
Map of the neuronal O-glycoproteome reveals driver functions in the regulated secretory pathway.
Journal: The Journal of biological chemistry
Published: April 01, 2025
Causes of mortality in the congenital disorders of glycosylation.
Journal: Molecular genetics and metabolism
Published: December 05, 2024
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Journal: Molecular genetics and metabolism
Published: November 06, 2024
Last Updated: 09/26/2026