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
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M et al.
Clinical Genetics, 2021
32888189 (PubMed )
Supplement: CGE-99-99-s003.xlsx › New_addded_cases
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
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Mathis D et al.
Journal of Inherited Metabolic Disease, 2016
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.
Levtova A et al.
Jimd Reports, 2015
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