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

[Image: see text] 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 encephal...

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Pubblicato in:Anal Chem
Autori principali: Wilson, Matthew P., Footitt, Emma J., Papandreou, Apostolos, Uudelepp, Mari-Liis, Pressler, Ronit, Stevenson, Danielle C., Gabriel, Camila, McSweeney, Mel, Baggot, Matthew, Burke, Derek, Stödberg, Tommy, Riney, Kate, Schiff, Manuel, Heales, Simon J. R., Mills, Kevin A., Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Chemical Society 2017
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5588098/
https://ncbi.nlm.nih.gov/pubmed/28782931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acs.analchem.7b01358
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