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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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2021
Konular:
Clinical Medicine
Online Erişim: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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