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Pyridoxine-dependent epilepsy initially responsive to phenobarbital
(Academia Brasileira de Neurologia - ABNEURO, 2007-12-01)
Pyridoxine-dependent epilepsy is a rare autossomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a ...
Mouse Lysine Catabolism To Aminoadipate Occurs Primarily Through The Saccharopine Pathway; Implications For Pyridoxine Dependent Epilepsy (pde)
(Elsevier Science BVAmsterdam, 2017)
Simultaneous Detection Of Lysine Metabolites By A Single Lc-ms/ms Method: Monitoring Lysine Degradation In Mouse Plasma
(Springer International Publishing AgCham, 2016)