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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Huvudupphovsmän: Bok, Levinus A, Halbertsma, Feico, Kerkhoff, Frank, Jakobs, Cornelis, Duijsters, Carola, Willemsen, Michèl
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Publishing Group 2011
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Article
Länkar: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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