Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

BACKGROUND: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants lead to deficiency of α-aminoadipic semialdehyde dehydrogenase/antiquitin, resulting in accumulation of piperideine-6-carboxy...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Engelke, Udo F.H., van Outersterp, Rianne E., Merx, Jona, van Geenen, Fred A.M.G., van Rooij, Arno, Berden, Giel, Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Peters, Tessa M.A., Al-Shekaili, Hilal H., Leavitt, Blair R., de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A., Kulkarni, Purva, Rutjes, Floris P.J.T., Mecinović, Jasmin, Struys, Eduard A., Jansen, Laura A., Gospe, Sidney M., Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michèl A.A.P., Bok, Levinus A., van Karnebeek, Clara D.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan, Coene, Karlien L.M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2021
Assuntos:
Clinical Medicine
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8321577/
https://ncbi.nlm.nih.gov/pubmed/34138754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI148272
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