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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Chemical Society 2017
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588098/
https://www.ncbi.nlm.nih.gov/pubmed/28782931
http://dx.doi.org/10.1021/acs.analchem.7b01358

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588098/
https://www.ncbi.nlm.nih.gov/pubmed/28782931
http://dx.doi.org/10.1021/acs.analchem.7b01358

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