Associated Papers
Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.
Dev P et al.
Plos One, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.
Epifani F et al.
Journal of Inherited Metabolic Disease, 2025
Letter to the editors: Supervised machine learning prediction of genotype-phenotype correlations in PMM2-CDG, in response to Pajusalu et al. [].
Boonnak J
Molecular Genetics and Metabolism, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.
Islam NN et al.
Communications Biology, 2025
In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.
Hay Mele B et al.
Molecules (basel, Switzerland), 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Verberkmoes S et al.
Molecular Genetics and Metabolism, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.
Okamoto N et al.
Jimd 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
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Causes of mortality in the congenital disorders of glycosylation.
Alharbi H et al.
Molecular Genetics and Metabolism, 2025
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).
Weixel T et al.
Journal of Inherited Metabolic Disease, 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
Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.
Plachy L et al.
Endocrine Connections, 2024
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.
Gallego D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K et al.
Jci Insight, 2024
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.
Pascoal C et al.
Frontiers in Immunology, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C et al.
Molecular Genetics and Metabolism, 2023
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G et al.
Journal of Inherited Metabolic Disease, 2023
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.
Zdrazilova L et al.
Molecular Genetics and Metabolism, 2023
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S et al.
Cell Reports. Medicine, 2023
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef D et al.
Molecular Genetics and Metabolism, 2023
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Tahata S et al.
Molecular Genetics and Metabolism, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN et al.
Journal of Inherited Metabolic Disease, 2023
[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].
Zhou SY
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Segovia-Falquina C et al.
Human Mutation, 2022
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Vurallı D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
Parrado A et al.
Glycobiology, 2022
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
The development of end stage renal disease in two patients with PMM2-CDG.
Tiwary H et al.
Jimd Reports, 2022
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
de Haas P et al.
Frontiers in Immunology, 2022
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN et al.
Annals of Neurology, 2021
Anthropometric Phenotype of Patients with PMM2-CDG.
Lipiński P et al.
Children (basel, Switzerland), 2021
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.
Lipiński P et al.
Molecular Genetics and Metabolism Reports, 2021
Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant.
López-Gálvez R et al.
Clinical Reviews in Allergy & Immunology, 2021
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.
Witters P et al.
Orphanet Journal of Rare Diseases, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Witters P et al.
Orphanet Journal of Rare Diseases, 2021
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
Starosta RT et al.
Orphanet Journal of Rare Diseases, 2021
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
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Görlacher M et al.
Molecular Genetics and Metabolism Reports, 2020
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.
Qian Z et al.
Jimd Reports, 2020
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020