Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy

Deficiency of antiquitin (α‐aminoadipic semialdehyde dehydrogenase), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B(6)‐dependent epilepsy (PDE‐ALDH7A1). Despite seizure control with high dose pyridoxine (PN), developmental delay still occurs in appro...

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Detalles Bibliográficos
Autores principales: Crowther, Lisa M., Poms, Martin, Zandl‐Lang, Martina, Abela, Lucia, Hartmann, Hans, Seiler, Michelle, Mathis, Déborah, Plecko, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092344/
https://www.ncbi.nlm.nih.gov/pubmed/36225138
http://dx.doi.org/10.1002/jimd.12569

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092344/
https://www.ncbi.nlm.nih.gov/pubmed/36225138
http://dx.doi.org/10.1002/jimd.12569

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