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Last Updated: 10/31/2025

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Found 234 publications

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Journal: Neuropediatrics
Published: October 06, 2025

AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG).

AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG).

Journal: bioRxiv : the preprint server for biology
Published: August 20, 2025

Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS.

Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS.

Journal: bioRxiv : the preprint server for biology
Published: July 17, 2025

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.

Journal: Frontiers in immunology
Published: June 27, 2025

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.

Journal: Journal of inherited metabolic disease
Published: June 07, 2025

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.

Journal: JCEM case reports
Published: May 25, 2025

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Journal: Molecular genetics and metabolism
Published: May 01, 2025

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.

Journal: Molecules (Basel, Switzerland)
Published: April 30, 2025

Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS.

Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS.

Journal: Molecular genetics and metabolism
Published: April 30, 2025

A mild ataxia-dominant phenotype of Phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) in a Tunisian Family: broadening the geographical scope.

A mild ataxia-dominant phenotype of Phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) in a Tunisian Family: broadening the geographical scope.

Journal: Journal of movement disorders
Published: April 18, 2025

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor.

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor.

Journal: JIMD reports
Published: April 02, 2025
Showing 1-12 of 234

Last Updated: 10/31/2025