Associated Papers
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.
Mangione R et al.
Scientific Reports, 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
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V et al.
Journal of Inherited Metabolic Disease, 2025
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.
Cirnigliaro L et al.
Orphanet Journal of Rare Diseases, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
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
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
Francisco R et al.
Journal of Clinical Medicine, 2020
32635232 (PubMed )
Supplement: jcm-09-02092-s001.pdf
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Mostile G et al.
European Journal of Neurology, 2019
In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP‑Man.
Bortot B et al.
International Journal of Molecular Medicine, 2019
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E et al.
European Journal of Human Genetics : Ejhg, 2002
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