Načítá se...
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...
Uloženo v:
| Hlavní autoři: | , , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2012
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|