EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
1303560 |
[Polysaccharide amylopectin-type storage myopathy] |
causal interaction
unassigned |
4
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
1337588 |
Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats. |
causal interaction
unassigned |
4
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
1838126 |
Apparent absence of glycogen branching enzyme activity in phosphofructokinase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
2521770 |
Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
2
2
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
3162725 |
A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease. |
causal interaction
unassigned |
4
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
3474393 |
Severe cardiopathy in branching enzyme deficiency. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
5278749 |
Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
3
1
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
7683169 |
Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
7971833 |
[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family] |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
1
1
4
1 |
| 2.4.1.18 | 1,4-alpha-glucan branching enzyme deficiency |
8463281 |
Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. |
ongoing research
unassigned |
4
0 |
