Disease: Phosphomannoisomerase deficiency
- A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
- A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies
- A Temperature-sensitive mutation in the Arabidopsis thaliana phosphomannomutase gene disrupts protein glycosylation and triggers cell death
- A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation
- A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency
- Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality
- Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib
- Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients
- An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib
- Ascorbate metabolism in rice genotypes differing in zinc efficiency
- Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption
- Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix
- Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy
- Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma
- Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities
- Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
- Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
- Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
- Carbohydrate-deficient glycoprotein syndromes
- Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation
- Clinical approach to inherited metabolic disorders in neonates: an overview
- Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
- Clinical utility gene card for: Phosphomannose isomerase deficiency
- Congenital disorder of glycosylation type 1b. Experience with mannose treatment
- Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation
- Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies
- Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation
- Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
- Congenital hepatic fibrosis-is it really a matter of "a spoonful of sugar?"
- Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
- Detection of hypo-N-glycosylation using mass spectrometry of transferrin
- Diarrhea and gastrointestinal hemorrhage. Etiology: hereditary metabolic disease
- Disturbances in aminoglycan synthesis
- Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation
- Escherichia coli phosphoglucose isomerase can be substituted by members of the PGI family, the PGI/PMI family, and the cPGI family
- Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts
- Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic
- GDP-mannose pyrophosphorylase is an efficient target in <em>Xanthomonas citri</em> for citrus canker control
- Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation
- Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
- Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1
- Golden Indica and Japonica rice lines amenable to deregulation
- Haemophilus ducreyi produces a novel sialyltransferase. Identification of the sialyltransferase gene and construction of mutants deficient in the production of the sialic acid-containing glycoform of the lipooligosaccharide
- Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis
- Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
- Hyperinsulinemic hypoglycemia of infancy: the challenge continues
- Identification and characterization of the dTDP-rhamnose biosynthesis and transfer genes of the lipopolysaccharide-related rfb locus in Leptospira interrogans serovar Copenhageni
- Identification of a species-specific inhibitor of glycosylphosphatidylinositol synthesis
- Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells
- Identification of mannose uptake and catabolism genes in Corynebacterium glutamicum and genetic engineering for simultaneous utilization of mannose and glucose
- Influence of the Photorhabdus luminescens phosphomannose isomerase gene, manA, on mannose utilization, exopolysaccharide structure, and biofilm formation
- Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy
- Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!
- Long term outcome of MPI-CDG patients on D-mannose therapy
- Loss of Phosphomannose Isomerase Impairs Growth, Perturbs Cell Wall Integrity, and Reduces Virulence of <em>Fusarium oxysporum</em> f. sp. <em>cubense</em> on Banana Plants
- Loss of Phosphomannose Isomerase Impairs Growth, Perturbs Cell Wall Integrity, and Reduces Virulence of Fusarium oxysporum f. sp. cubense on Banana Plants
- Mannose impairs tumour growth and enhances chemotherapy
- Mannose metabolism: more than meets the eye
- Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review
- Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)
- Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity
- Molecular diagnosis of congenital disorders of glycosylation
- MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect
- MPI-CDG with transient hypoglycosylation and antithrombin deficiency
- N-glycosylation augmentation of the cystic fibrosis epithelium improves Pseudomonas aeruginosa clearance
- N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response
- New diagnosis and treatment of congenital hepatic fibrosis
- Ontogeny of D-mannose transport and metabolism in rat small intestine
- Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency
- Overexpression of Mycobacterium tuberculosis manB, a phosphomannomutase that increases phosphatidylinositol mannoside biosynthesis in Mycobacterium smegmatis and mycobacterial association with human macrophages
- Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy
- Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
- Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts
- Phosphomannose Isomerase Is Involved in Development, Stress Responses, and Pathogenicity of Aspergillus flavus
- Phosphomannoseisomerase deficiency as the cause of protein-losing enteropathy and congenital liver fibrosis
- Phosphosugar Stress in Bacillus subtilis: Intracellular Accumulation of Mannose 6-Phosphate Derepressed the <em>glcR-phoC</em> Operon from Repression by GlcR
- Phosphosugar Stress in Bacillus subtilis: Intracellular Accumulation of Mannose 6-Phosphate Derepressed the glcR-phoC Operon from Repression by GlcR
- Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib
- Protein-Specific Glycoprofiling for Patient Diagnostics
- Repeated landmass reformation limits diversification in the widespread littoral zone mosquito Anopheles sundaicus sensu lato in the Indo-Oriental Region
- Reversible synthesis of colanic acid and O-antigen polysaccharides in Salmonella Typhimurium enhances induction of cross-immune responses and provides protection against heterologous Salmonella challenge
- Saving lives with sugar
- Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG)
- Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
- Sex differences in the adolescent brain and body: Findings from the saguenay youth study
- Structural Studies of Lipopolysaccharide-defective Mutants from Brucella melitensis Identify a Core Oligosaccharide Critical in Virulence
- Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse
- Successful liver transplantation and long-term follow-up in a patient with MPI-CDG
- Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
- Sugar-Phosphate Metabolism Regulates Stationary-Phase Entry and Stalk Elongation in Caulobacter crescentus
- Synthesis of the A-band polysaccharide sugar D-rhamnose requires Rmd and WbpW: identification of multiple AlgA homologues, WbpW and ORF488, in Pseudomonas aeruginosa
- The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib
- The metabolic origins of mannose in glycoproteins
- The prenatal diagnosis of congenital disorders of glycosylation (CDG)
- The relative contribution of mannose salvage pathways to glycosylation in PMI-deficient mouse embryonic fibroblast cells
- The role of phosphomannose isomerase in Leishmania mexicana glycoconjugate synthesis and virulence
- Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
- Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism
- Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
- Variation of the serum <em>N</em>-glycosylation during the pregnancy of a MPI-CDG patient
