Associated Papers
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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A 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
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.
Vals MA et al.
Jimd Reports, 2018
Three families with mild PMM2-CDG and normal cognitive development.
Vals MA et al.
American Journal of Medical Genetics. Part A, 2017
[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis].
Bubel S et al.
Der Nervenarzt, 2002
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Westphal V et al.
Human Molecular Genetics, 2002
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
Grünewald S et al.
American Journal of Human Genetics, 2001
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
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