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Roth spots in pyridoxine dependent epilepsy
Pyridoxine dependent epilepsy (PDE) is a rare metabolic defect in the degradation of lysine. The authors report a patient with metabolic and DNA confirmed PDE, on the fifth day of life ophthalmoscopy showed bilateral multiple white centred retinal haemorrhages, so called Roth spots. Roth spots are n...
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| Hoofdauteurs: | , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Publishing Group
2011
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3171040/ https://ncbi.nlm.nih.gov/pubmed/22688935 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.05.2011.4209 |
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