Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

Vitamin B(6)‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these disorders, biallelic pathogenic variants in PLPBP h...

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Detalles Bibliográficos
Autores principales: Heath, Oliver, Pitt, James, Mandelstam, Simone, Kuschel, Carl, Vasudevan, Anand, Donoghue, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932866/
https://www.ncbi.nlm.nih.gov/pubmed/33728241
http://dx.doi.org/10.1002/jmd2.12183

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