ArticleAnalytical chemistry2017
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.
Article in Analytical chemistry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 27 citations in OpenAlex.
- Modern Analytical Techniques in Epilepsy Research.International journal of molecular sciences · 2026Review
- Metabolomics and Microbiomics Insights into Differential Surface Fouling of Three Macroalgal Species ofMarine drugs · 2023Article
- Protein engineering and iterative multimodule optimization for vitamin BNature communications · 2023Article
- Article
- Comparison of extraction methods for intracellular metabolomics of human tissues.Frontiers in molecular biosciences · 2022Article
- Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.Biochimie · 2021Review
- Early-onset vitamin BJIMD reports · 2021Article
- Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.Clinical genetics · 2021Article
- The effectiveness of correcting abnormal metabolic profiles.Journal of inherited metabolic disease · 2020Article
- Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.Metabolites · 2019Article
- PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.Annals of neurology · 2019Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 4 countries.
Funding
Abstract
We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.