Associated Papers
Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG.
Zhang H et al.
Molecular Genetics and Metabolism, 2025
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.
Oliveira T et al.
Orphanet Journal of Rare Diseases, 2025
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N et al.
Journal of Inherited Metabolic Disease, 2022
Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.
Thirumal Kumar D et al.
Journal of Biomolecular Structure & Dynamics, 2021
[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].
Ren C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G et al.
Human Mutation, 2000
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
Bjursell C et al.
Human Mutation, 2000
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Erlandson A et al.
Genetic Testing, 2000
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
Kjaergaard S et al.
European Journal of Human Genetics : Ejhg, 1999
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
Kjaergaard S et al.
European Journal of Human Genetics : Ejhg, 0
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