Associated Papers
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.
Islam NN et al.
Communications Biology, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Verberkmoes S 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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K et al.
Jci Insight, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
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
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
Hopkins JJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease.
Acharya R et al.
Pediatric Reports, 2022
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Vurallı D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 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
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 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
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.
González-Domínguez CA et al.
Molecular Genetics and Metabolism Reports, 2020
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.
Moreno Macián F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
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
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
Sharma V et al.
The Journal of Biological Chemistry, 2011
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Jones MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a.
Malhotra A et al.
Fetal Diagnosis and Therapy, 2009
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G et al.
Human Mutation, 2000
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.
Westphal V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0