PMM2-Congenital Disorder of Glycosylation Latest Advances

Find the Latest Research About PMM2-Congenital Disorder of Glycosylation

Last Updated: 09/26/2026

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Found 247 publications

Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase 2 congenital disorder of glycosylation.

Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase 2 congenital disorder of glycosylation.

Journal: The Journal of biological chemistry

Published: July 06, 2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal: Journal of inherited metabolic disease

Published: May 23, 2026

Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDG.

Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDG.

Journal: iScience

Published: April 01, 2026

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

Journal: Molecular genetics and metabolism

Published: February 03, 2026

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

Showing 1-12 of 247

Last Updated: 09/26/2026