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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2012
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| Assuntos: | |
| Acesso em linha: | 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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