PMM2-Congenital Disorder of Glycosylation Latest Advances

Find the Latest Research About PMM2-Congenital Disorder of Glycosylation

Last Updated: 04/28/2026

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Found 242 publications

Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results.

Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results.

Journal: Molecular genetics and metabolism
Published: January 12, 2026

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.

Journal: Cureus
Published: December 07, 2025

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation.

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation.

Journal: Molecular genetics and metabolism
Published: October 20, 2025

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

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review.

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review.

Journal: Molecular genetics and metabolism
Published: September 16, 2025

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. [].

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).

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

A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.

A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.

Journal: Molecular genetics and metabolism
Published: August 06, 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

Lipo-Glc-1,6-P2: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation.

Lipo-Glc-1,6-P2: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation.

Journal: IUBMB life
Published: July 10, 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
Showing 1-12 of 242

Last Updated: 04/28/2026