Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy

Autosomal recessive disorders affecting pyridoxine (vitamin B6) metabolism are a rare but well-recognized cause of neonatal seizures. Antiquitin deficiency, caused by mutations in ALDH7A1, is a disorder of the lysine degradation pathway causing accumulation of an intermediate that complexes with pyr...

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Detaylı Bibliyografya
Asıl Yazarlar: Proudfoot, Malcolm, Jardine, Philip, Straukiene, Agne, Noad, Rupert, Parrish, Andrew, Ellard, Sian, Weatherby, Stuart
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2013
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755577/
https://ncbi.nlm.nih.gov/pubmed/23430810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_210
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