EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
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 | mannose-6-phosphate isomerase deficiency |
3668496 |
Mannose inhibition as a significant marker for differentiating among novobiocin-resistant staphylococci of relevance in clinical microbiology. |
causal interaction unassigned |
4 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
9535779 |
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. |
causal interaction unassigned |
4 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
9585601 |
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. |
causal interaction unassigned |
3 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
10488719 |
Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy. |
causal interaction unassigned |
4 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
10586187 |
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. |
causal interaction unassigned |
4 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
10963387 |
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency. |
causal interaction unassigned |
4 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
12069534 |
Clinical approach to inherited metabolic disorders in neonates: an overview. |
causal interaction unassigned |
3 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
12434892 |
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. |
causal interaction unassigned |
4 0 |
5.3.1.8 | mannose-6-phosphate isomerase deficiency |
24982104 |
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG. |
causal interaction unassigned |
4 0 |