EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   3.2.1.106 | Glycogen Storage Disease Type II |
21477922 |
24-Months results in two adults with Pompe disease on enzyme replacement therapy. |
causal interaction
unassigned |
4
0 |
| 3.2.1.106 | Glycogen Storage Disease Type II |
30232608 |
36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry. |
causal interaction
therapeutic application
unassigned |
2
4
0 |
| 3.2.1.106 | Glycogen Storage Disease Type II |
22154081 |
?2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease. |
ongoing research
therapeutic application
unassigned |
1
1
0 |
| 3.2.1.106 | Muscle Weakness |
26454691 |
A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease. |
ongoing research
therapeutic application
unassigned |
3
1
0 |
| 3.2.1.106 | Glycogen Storage Disease Type II |
15145338 |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. |
diagnostic usage
unassigned |
1
0 |
| 3.2.1.106 | Glycogen Storage Disease |
25336838 |
A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2. |
causal interaction
unassigned |
4
0 |
| 3.2.1.106 | glucan 1,4-alpha-glucosidase deficiency |
22676651 |
A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
2
4
0 |
| 3.2.1.106 | Glycogen Storage Disease Type II |
22676651 |
A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
2
4
0 |
| 3.2.1.106 | mannosyl-oligosaccharide glucosidase deficiency |
22676651 |
A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
2
4
0 |
| 3.2.1.106 | Glycogen Storage Disease |
3282727 |
A family with pseudodeficiency of acid alpha-glucosidase. |
causal interaction
unassigned |
1
0 |
