Partial Pyridoxine Responsiveness in PNPO Deficiency

Objective: Autosomal-recessive pyridox(am)ine phosphate oxidase (PNPO) deficiency causes pyridoxal-5-phosphate (PLP)-dependent epilepsy. We describe partial PNPO deficiency with a transient response to pyridoxine (B6). Methods: CSF neurotransmitter metabolites, PLP, and amino acids were analyzed whi...

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Autors principals: Pearl, Phillip L., Hyland, Keith, Chiles, J, McGavin, Colleen L, Yu, Yuezhou, Taylor, Donald
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565675/
https://ncbi.nlm.nih.gov/pubmed/23430561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_194
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