Associated Papers
Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5'-phosphate therapy?
De Liso P et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.
Chi W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Wilson MP et al.
Analytical Chemistry, 2017
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB et al.
Brain : a Journal of Neurology, 2014
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