Pyridoxine responsiveness in novel mutations of the PNPO gene

OBJECTIVE: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations. METHODS: We sequenced the PNPO gene in 31 patients who fulfilled the above-mentioned criteria. RESULTS: We w...

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Détails bibliographiques
Auteurs principaux: Plecko, Barbara, Paul, Karl, Mills, Philippa, Clayton, Peter, Paschke, Eduard, Maier, Oliver, Hasselmann, Oswald, Schmiedel, Gudrun, Kanz, Simone, Connolly, Mary, Wolf, Nicole, Struys, Eduard, Stockler, Sylvia, Abela, Lucia, Hofer, Doris
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2014
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4001193/
https://ncbi.nlm.nih.gov/pubmed/24658933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000344
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