Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2016 · 63 citations · 22 references
Life SciencesBiochemistryNeuroscienceEpilepsyEpileptologyNeurochemistryAmino Acid MetabolismAmino Acid Metabolism DisordersEpilepsy PathologyEtiology Of EpilepsyMetabolic EpilepsiesLysine MetabolismPyridoxal Phosphate-dependent EpilepsyPyridoxine-dependent Epilepsy TreatmentRodent Epilepsy
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Mutations in antiquitin in individuals with pyridoxine-dependent seizures
Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations
Medicine, Neurology, Neuroscience +11
Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I
Sven W. Sauer, Silvana Opp, Georg F. Hoffmann et al. · Brain · 2010 · 124 citations · Full text