EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    5.3.1.8 | Congenital Disorders of Glycosylation |
9821433 |
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities. |
causal interaction
diagnostic usage
ongoing research
unassigned |
1
1
3
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
10484808 |
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
10783607 |
[Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy] |
causal interaction
unassigned |
2
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
10980531 |
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). |
causal interaction
ongoing research
unassigned |
3
2
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
11567948 |
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
12530817 |
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. |
diagnostic usage
ongoing research
unassigned |
3
1
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
19101627 |
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
19157945 |
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts. |
ongoing research
unassigned |
1
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
20523973 |
Ontogeny of D-mannose transport and metabolism in rat small intestine. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 5.3.1.8 | Congenital Disorders of Glycosylation |
22899857 |
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation. |
unassigned |
0 |
