Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.

A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation.

PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.

Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis.

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor.

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.

Activity values of the enzyme phosphomanomutase 2 for diagnosing the CDG Ia glycosylation defect.

AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG).

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.

Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS.

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.

Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG.

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.

A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.

Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2.

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

AAV-based gene replacement therapy prevents and halts manifestation of abnormal neurological phenotypes in a novel mouse model of PMM2-CDG.

Cysteine variants in PMM2 lead to protein instability and higher sensitivity to oxidative stress in PMM2-CDG.

Causes of mortality in the congenital disorders of glycosylation.

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder.

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Sensitivity of transferrin isoform analysis for PMM2-CDG.

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.

In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.

Glycosphingolipids in congenital disorders of glycosylation (CDG).

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation.

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.

Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG).

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts.

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.

"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.

Congenital disorders of glycosylation: narration of a story through its patents.

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.

PMM2 -CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India.

A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching.

Tracer metabolomics reveals the role of aldose reductase in glycosylation.

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.

Congenital disorder of glycosylation - one size does not fit all: a parent's perspective.

Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.

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.

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.

Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease.

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

A Participatory Framework for Plain Language Clinical Management Guideline Development.

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.

A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic.

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.

Patient-reported outcomes and quality of life in PMM2-CDG.

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency.

The development of end stage renal disease in two patients with PMM2-CDG.

Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation.

PMM2-CDG and nephrotic syndrome: A case report.

Assessing the effects of PMM2 variants on protein stability.

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.

Genotype-Phenotype Correlations in PMM2-CDG.

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.

Anthropometric Phenotype of Patients with PMM2-CDG.

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.

Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.

Mannose supplementation in PMM2-CDG.

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Recurrent fetal truncus arteriosus associated with PMM2-CDG.

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Congenital disorders of glycosylation in children - Histopathological and ultrastructural changes in the liver.

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

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.

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.

New and potential strategies for the treatment of PMM2-CDG.

PMM2-CDG caused by uniparental disomy: Case report and literature review.

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

Proteostasis regulators as potential rescuers of PMM2 activity.

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.

Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.

Unsuccessful intravenous D-mannose treatment in PMM2-CDG.

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG.

Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies.

Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature.

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Congenital disorders of glycosylation.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

The challenge of CDG diagnosis.

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.

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.

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

Recognizable phenotypes in CDG.

Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

Renal involvement in PMM2-CDG, a mini-review.

Congenital disorders of glycosylation (CDG): Quo vadis?

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.

PMM2-CDG and sensorineural hearing loss.

Congenital disorders of glycosylation: The Saudi experience.

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.

Protein misfolding diseases: Prospects of pharmacological treatment.

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

Three families with mild PMM2-CDG and normal cognitive development.

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG).

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model.

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.