EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.3.2.1 | - |
33917608 |
Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism. |
causal interaction
unassigned |
1
0 |
| 6.3.2.1 | 5'-nucleotidase deficiency |
2535789 |
Pyrimidine nucleotides impair phosphoribosylpyrophosphate (PRPP) synthetase subunit aggregation by sequestering magnesium. A mechanism for the decreased PRPP synthetase activity in hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency. |
unassigned |
0 |
| 6.3.2.1 | 5'-nucleotidase deficiency |
24972650 |
Inborn errors of purine metabolism: clinical update and therapies. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 6.3.2.1 | 6,7-dihydropteridine reductase deficiency |
3444720 |
[Trial of indirect screening of tetrahydrobiopterin deficiency] |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
2
2
0 |
| 6.3.2.1 | 6,7-dihydropteridine reductase deficiency |
3930839 |
Differential diagnosis of tetrahydrobiopterin deficiency. |
causal interaction
unassigned |
4
0 |
| 6.3.2.1 | 6,7-dihydropteridine reductase deficiency |
6790841 |
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients. |
diagnostic usage
unassigned |
2
0 |
| 6.3.2.1 | 6-phosphofructokinase deficiency |
21090428 |
Activities of glycogen synthetase and UDPG-pyrophosphorylase in muscle of a patient with a new type of muscle glycogenosis caused by phosphofructokinase deficiency. |
causal interaction
unassigned |
3
0 |
| 6.3.2.1 | Abetalipoproteinemia |
12058097 |
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. |
unassigned |
0 |
| 6.3.2.1 | Abetalipoproteinemia |
16003113 |
Neuroacanthocytosis. |
causal interaction
unassigned |
3
0 |
| 6.3.2.1 | Abetalipoproteinemia |
17210889 |
Neurologic phenotypes associated with acanthocytosis. |
causal interaction
unassigned |
4
0 |
