Disease on EC 5.3.1.8 - mannose-6-phosphate isomerase

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DISEASE
TITLE OF PUBLICATION
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6-phosphofructokinase deficiency
[Exercise-induced muscular weakness, myalgia and contractures. I. A clinical review]
[Exercise-induced muscular weakness, myalgia and contractures. II. Casuistic contribution]
Alcohol Withdrawal Delirium
Activity of aldolase, aminotransferases, phosphohexoisomerase and ceruloplasmin in the course of delirium tremens.
[Activity of aldolase, aminotransferases, phosphohexoisomerase and ceruloplasmin in the course of delirium tremens]
Anemia
[Erythrocyte enzymes; activity of glycolytic enzymes of erythrocytes in anemia: phosphoglucomutase, phosphohexoisomerase, diphosphofructaldolase, lactic acid dehydrogenase.]
Biliary Tract Diseases
[Serum iron and copper levels and serum activity of phosphohexoisomerase and glutamic-pyruvic transaminase in patients with liver and biliary tract disease]
Blindness
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Congenital Disorders of Glycosylation
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 zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.
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.
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.
Ontogeny of D-mannose transport and metabolism in rat small intestine.
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.
[Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.
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 zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.
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.
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.
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).
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Ontogeny of D-mannose transport and metabolism in rat small intestine.
Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia.
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.
The metabolic origins of mannose in glycoproteins.
Cystic Fibrosis
Alginate biosynthetic enzymes in mucoid and nonmucoid Pseudomonas aeruginosa: overproduction of phosphomannose isomerase, phosphomannomutase, and GDP-mannose pyrophosphorylase by overexpression of the phosphomannose isomerase (pmi) gene.
Functional analysis of the Burkholderia cenocepacia J2315 BceA(J) protein with phosphomannose isomerase and GDP-D: -mannose pyrophosphorylase activities.
Diphtheria
Assignment of hexosaminidase-B to chromosome 5, its segregation after diphtheria toxin selection, and the linkage of hexosaminidase-A, mannose phosphate isomerase, and pyruvate kinase (M2).
Ependymoma
[Histochemical demonstration of glial enzyme activity. II. Reagent and neoplastic glia]
Fructose Intolerance
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.
Glioma
Mannose phosphate isomerase regulates fibroblast growth factor receptor family signaling and glioma radiosensitivity.
Hepatitis
[The diagnostic value of determining serum iron and copper levels and activity of phosphohexoisomerase and pyruvic-glutamic transaminase in viral hepatitis]
Hepatitis A
[MICRODETERMINATION OF PHOSPHOHEXOISOMERASE (GLUCOSEPHOSPHATE ISOMERASE) IN THE SERUM AND THE CLINICAL IMPORTANCE OF ITS DETERMINATION IN INFECTIOUS HEPATITIS.]
Hypoglycemia
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
Leishmaniasis
Biochemical characterization of Leishmania (Viannia) braziliensis and Leishmania (Viannia) peruviana by isoenzyme electrophoresis.
Use of FTA cards for direct sampling of patients' lesions in the ecological study of cutaneous leishmaniasis.
Liver Cirrhosis
Mannose Phosphate Isomerase and Mannose Regulate Hepatic Stellate Cell Activation and Fibrosis in Zebrafish and Humans.
Liver Diseases
Mannose Phosphate Isomerase and Mannose Regulate Hepatic Stellate Cell Activation and Fibrosis in Zebrafish and Humans.
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
[Studies on the serum enzymes in liver diseases; the activity of phosphohexoisomerase, aldolase and alkaline phosphatase.]
Liver Failure
Clinical approach to inherited metabolic disorders in neonates: an overview.
mannose-6-phosphate isomerase 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 zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
Clinical approach to inherited metabolic disorders in neonates: an overview.
Clinical utility gene card for: Phosphomannose isomerase deficiency.
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.
Mannose inhibition as a significant marker for differentiating among novobiocin-resistant staphylococci of relevance in clinical microbiology.
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency.
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.
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG.
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.
Muscular Diseases
[Glycogen myopathy with a probable deficiency of phosphohexoisomerase. Preliminary report]
Neoplasms
Alterations in erythrocyte enzymes in cancer.
Evaluation of Ehrlich's test as screening test for cancer.
Glucosephosphate isomerase as a CSF marker for leptomeningeal metastasis.
[Clinical evaluation of the sedimentation reaction to cancer, indices of uropepsinogen and phosphohexoisomerase activity in the blood serum of patients with stomach cancer]
[Histochemical demonstration of glial enzyme activity. II. Reagent and neoplastic glia]
Parasitic Diseases
Complexes of a Zn-metalloenzyme binding site with hydroxamate-containing ligands. A case for detailed benchmarkings of polarizable molecular mechanics/dynamics potentials when the experimental binding structure is unknown.
Pneumonia
[Determination of phosphohexoisomerase activity in chronic pneumonia]
Protein-Losing Enteropathies
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.
Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy.
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.
Sarcoma
Sheep gene mapping: additional DNA markers included (CASB, CASK, LALBA, IGF-1 and AMH).
Stomach Neoplasms
[Clinical evaluation of the sedimentation reaction to cancer, indices of uropepsinogen and phosphohexoisomerase activity in the blood serum of patients with stomach cancer]
[Effect of insulin on the activity of serum phosphohexoisomerase in gastric cancer]
Thrombocytopenia
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.