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Results 1 - 10 of 166 > >>
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Brain Diseases
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
causal interaction
1
Brain Diseases
Molecular basis of reduced Pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.
causal interaction
4
Brain Diseases
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
causal interaction
3
Brain Diseases
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.
causal interaction
4
Brain Diseases
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
causal interaction
2
Brain Diseases
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
causal interaction
4
Brain Diseases
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
diagnostic usage
3
Brain Diseases
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
diagnostic usage
4
Brain Diseases
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
therapeutic application
4
Brain Diseases
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.
therapeutic application
1
Results 1 - 10 of 166 > >>