Associated Papers
Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.
Wolfson S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2026
PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.
Blasingame BA et al.
Pediatric Transplantation, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.
van Paassen BW et al.
Neurology. Genetics, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.
Ødum SF et al.
Jcem Case Reports, 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
Are viral vector-mediated therapies compatible with aberrant glycosylation?
Muffels IJJ et al.
Molecular Therapy. Methods & Clinical Development, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG.
Zhang H et al.
Molecular Genetics and Metabolism, 2025
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.
Islam NN et al.
Communications Biology, 2025
Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.
Okamoto N et al.
Journal of Human Genetics, 2025
Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.
Alagha P et al.
Archives of Iranian Medicine, 2025
Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.
Balcerzyk-Matić A et al.
International Journal of Molecular Sciences, 2025
In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.
Hay Mele B et al.
Molecules (basel, Switzerland), 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.
Edmondson AC et al.
Biorxiv : the Preprint Server for Biology, 2025
Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2.
Monticelli M et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.
Mangione R et al.
Scientific Reports, 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
Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Hall PL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Causes of mortality in the congenital disorders of glycosylation.
Alharbi H et al.
Molecular Genetics and Metabolism, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Alfayyadh MM et al.
Clinical Genetics, 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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.
Del Medico G et al.
Frontiers in Endocrinology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.
Pascoal C et al.
Frontiers in Immunology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.
Zemet R et al.
Molecular Genetics and Metabolism, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C et al.
Molecular Genetics and Metabolism, 2024
Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation.
Monticelli M et al.
Biochimie, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 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
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Budhraja R et al.
Molecular Genetics and Metabolism, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K et al.
Jci Insight, 2024
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic S et al.
Cell Reports, 2024
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor A et al.
Proteomics. Clinical Applications, 2024
AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG).
Zhong M et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024