Associated Papers
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
Brands MM et al.
Neuropediatrics, 2026
Pyridoxal 5'-Phosphate Biosynthesis by Pyridox-(am)-ine 5'-Phosphate Oxidase: Species-Specific Features.
Rivero M et al.
International Journal of Molecular Sciences, 2024
Identification of the pyridoxal 5'-phosphate allosteric site in human pyridox(am)ine 5'-phosphate oxidase.
Barile A et al.
Protein Science : a Publication of the Protein Society, 2024
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.
Jiao X et al.
Human Molecular Genetics, 2023
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.
Yang H et al.
Scientific Reports, 2022
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
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
Barile A et al.
International Journal of Molecular Sciences, 2021
Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.
Ghatge MS et al.
Biochimie, 2021
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
Complexities of pyridoxine response in PNPO deficiency.
Farmania R et al.
Epilepsy & Behavior Reports, 2021
Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox.
Mohanlal S et al.
Epilepsy & Behavior Reports, 2020
Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.
Lugli L et al.
Journal of Child Neurology, 2019
Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.
Xue J et al.
Metabolic Brain Disease, 2017
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
Jaeger B et al.
Molecular Genetics and Metabolism Reports, 2016
Select a paper to view details