Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants. Early diagnosis and treatment are crucial to prevent severe neurological s...

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Detalles Bibliográficos
Autores principales: Böhm, Hans-Otto, Yazdani, Mazyar, Sandås, Elise Mørk, Østeby Vassli, Anja, Kristensen, Erle, Rootwelt, Helge, Skogvold, Hanne Bendiksen, Brodtkorb, Eylert, Elgstøen, Katja Benedikte Prestø
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9784804/
https://www.ncbi.nlm.nih.gov/pubmed/36555701
http://dx.doi.org/10.3390/ijms232416061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9784804/
https://www.ncbi.nlm.nih.gov/pubmed/36555701
http://dx.doi.org/10.3390/ijms232416061

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