PMM2-Congenital Disorder of Glycosylation Latest Advances

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

Journal: Neuropediatrics

Published: October 06, 2025

Letter to the editors: Supervised machine learning prediction of genotype-phenotype correlations in PMM2-CDG, in response to Pajusalu et al. [].

Journal: Molecular genetics and metabolism

Published: August 25, 2025

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.

Journal: bioRxiv : the preprint server for biology

Published: July 17, 2025

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.

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.

Journal: Journal of inherited metabolic disease

Published: June 07, 2025

PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.

Journal: Pediatric transplantation

Published: May 26, 2025

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

Journal: JCEM case reports

Published: May 25, 2025

Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis.

Journal: Biology open

Published: May 22, 2025

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.

Journal: Molecules (Basel, Switzerland)

Published: April 30, 2025

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

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

Letter to the editors: Supervised machine learning prediction of genotype-phenotype correlations in PMM2-CDG, in response to Pajusalu et al. [].

Letter to the editors: Supervised machine learning prediction of genotype-phenotype correlations in PMM2-CDG, in response to Pajusalu et al. [].

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).

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.

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.

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

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

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.

PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.

PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.

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.

Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis.

Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis.

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.

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.