Disease: Lysine alpha-ketoglutarate reductase deficiency
- Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option
- Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
- Effect of dietary lysine on hepatic lysine catabolism in broilers
- Fatal hypermagnesemia caused by an Epsom salt enema: a case illustration
- Genetic basis of hyperlysinemia
- Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update
- Inhibition of creatine kinase activity by lysine in rat cerebral cortex
- Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient
- Metabolomic Analysis Reveals That the <em>Drosophila melanogaster</em> Gene <em>lysine</em> Influences Diverse Aspects of Metabolism
- Metabolomic Analysis Reveals That the Drosophila melanogaster Gene lysine Influences Diverse Aspects of Metabolism
- Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia
- Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology
- Oral formulation of pyridoxine for the treatment of pyridoxinedependent epilepsy in a paediatric patient
- Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
- The catabolic function of the alpha-aminoadipic acid pathway in plants is associated with unidirectional activity of lysine-oxoglutarate reductase, but not saccharopine dehydrogenase
- The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis
- The Metabolite Saccharopine Impairs Neuronal Development by Inhibiting the Neurotrophic Function of Glucose-6-Phosphate Isomerase