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Complexities of pyridoxine response in PNPO deficiency
Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient r...
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| 出版年: | Epilepsy Behav Rep |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Elsevier
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8082192/ https://ncbi.nlm.nih.gov/pubmed/33981986 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebr.2021.100443 |
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