Associated Papers
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
Brands MM et al.
Neuropediatrics, 2026
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.
Jiao X et al.
Human Molecular Genetics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency.
Jiao X et al.
Frontiers in Genetics, 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
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
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
Fung CW et al.
Epilepsia Open, 2017
Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.
Guerin A et al.
Journal of Child Neurology, 2015
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu S et al.
Epilepsia, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
Mercimek-Mahmutoglu S et al.
Orphanet Journal of Rare Diseases, 2015
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