Disease: Congenital disorder of glycosylation type 1A
- "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics
- 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
- A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
- A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching
- A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
- A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect
- 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
- Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency
- Analysis of PMM2 gene variant in an infant with congenital disorders of glycosylation type 1a
- 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
- Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
- ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
- Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report
- AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
- Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review
- Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements
- Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
- Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
- Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
- Clinical utility gene card for: Phosphomannomutase 2 deficiency
- Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation
- Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation
- Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
- Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype
- Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?
- Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation
- Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency
- Congenital disorders of glycosylation with neonatal presentation
- Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability
- D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
- Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome
- DFT investigation on the reaction mechanism catalyzed by α-phosphomannomutase1 in protonated/deprotonated states
- Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
- Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
- Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
- Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases
- Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
- Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
- From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
- Genotype-Phenotype Correlations in PMM2-CDG
- Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe
- Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)
- Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
- Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies
- In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
- In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP‑Man
- Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage
- Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures
- Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
- International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
- Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- 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
- Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
- Mannose supplementation in PMM2-CDG
- Mannose-6-phosphate regulates destruction of lipid-linked oligosaccharides
- Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
- Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia)
- Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study
- N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity
- Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
- Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
- Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions
- New and potential strategies for the treatment of PMM2-CDG
- Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency
- Ophthalmic findings in an infant with phosphomannomutase deficiency
- Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
- Patient-reported outcomes and quality of life in PMM2-CDG
- PMM2-CDG and sensorineural hearing loss
- Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
- Pontocerebellar hypoplasia type 1: a case report
- Post-traumatic ossified subperiostial orbital hematoma: Case report
- Posterior fossa imaging in 158 children with ataxia
- Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a
- Presentation of congenital disorders of glycosylation type 1a
- Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation
- Proteostasis regulators as potential rescuers of PMM2 activity
- Re-evaluation of the dysequilibrium syndrome
- Renal involvement in PMM2-CDG, a mini-review
- Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG
- Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency
- Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases
- Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
- Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
- Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
- Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
- Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice
- Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model
- The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a
- The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a
- Tracer metabolomics reveals the role of aldose reductase in glycosylation
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
- Unsuccessful intravenous D-mannose treatment in PMM2-CDG
- Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
- Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
- Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl
- Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
- 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