• 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation
• A case of hyperlysinemia identified by urine newborn screening
• A case of hyperlysinemia: biochemical and clinical observations
• A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria
• A patient with persistent hyperlysinemia
• Alpha-aminoadipate delta-semialdehyde synthase mRNA knockdown reduces the lysine requirement of a mouse hepatic cell line
• Amino acid metabolism in patients with propionic acidaemia
• Asperger's syndrome and aminoaciduria: a case example
• Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency
• Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria
• Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant
• 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
• CONGENITAL LYSINE INTOLERANCE WITH PERIODIC AMMONIA INTOXICATION
• Dietary treatment of hyperlysinaemia
• Effects of experimentally induced hyperlysinemia on maze learning in mice
• Effects of supersuppressor genes on enzymes controlling lysine biosynthesis in Saccharomyces
• Engineered probiotic cocktail with two cascade metabolic Escherichia coli for the treatment of hyperlysinemia
• Excretion of hypusine by children and by patients with familial hyperlysinemia
• Excretion of pipecolic acid by infants and by patients with hyperlysinemia
• Familial hyperlysinaemia due to L-lysine alpha-ketoglutarate reductase deficiency: results of attempted treatment
• Familial hyperlysinemia in a patient presenting with progressive spastic paraparesis
• Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency
• Familial hyperlysinemia with mental retardation, convulsion & muscular hypertonia (author's transl)
• Familial hyperlysinemia with mental retardation, convulsion & muscular hypertonia (author's transl)
• Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology
• Familial hyperlysinemia(alpha-aminoadipic semialdehyde synthase defect)
• Familial hyperlysinemias--multiple enzyme deficiencies associated with the bifunctional aminoadipic semialdehyde synthase
• Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities
• Fatal hypermagnesemia caused by an Epsom salt enema: a case illustration
• Further studies of hyperlysinemia
• Further studies on hyperlysinemia associated with retardation
• Genetic basis of hyperlysinemia
• Hereditary persistant hyperlysinemia
• Hyperlysinaemia. Harmless inborn error of metabolism?
• HYPERLYSINEMIA
• HYPERLYSINEMIA
• Hyperlysinemia
• Hyperlysinemia and hyperammonemia
• Hyperlysinemia and lysine intolerance
• Hyperlysinemia associated with retardation
• Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria
• Hyperlysinemia without clinical findings
• Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update
• Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia
• Inborn errors of lysine metabolism
• Inhibition of creatine kinase activity by lysine in rat cerebral cortex
• L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
• Lactic acidaemia
• Letter: hyperlysinaemia
• Lysine induces lipid and protein damage and decreases reduced glutathione concentrations in brain of young rats
• Lysine intolerance in a variant form of citrullinemia
• Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient
• Lysine transport in human kidney
• Metabolomic Analysis Reveals That the <em>Drosophila melanogaster</em> Gene <em>lysine</em> Influences Diverse Aspects of Metabolism
• Mitochondrial NAD kinase in health and disease
• 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
• Multiple enzyme defects in familial hyperlysinemia
• Neurochemical evidence that lysine inhibits synaptic Na+,K+-ATPase activity and provokes oxidative damage in striatum of young rats in vivo
• Ocular manifestations of familial hyperlysinemia
• Oral formulation of pyridoxine for the treatment of pyridoxinedependent epilepsy in a paediatric patient
• Paths of lysine degradation in patients with hyperlysinemia
• Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities
• Pipecolic acid induces oxidative stress in vitro in cerebral cortex of young rats and the protective role of lipoic acid
• Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria
• Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients
• Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency
• Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
• Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance
• Saccharopinuria (a variant form of familial hyperlysinemia)
• Saturation of a shared mechanism which transports L-arginine and L-lysine into the brain of the living rat
• Separation of ornithine and lysine activities of the ornithine-transcarbamylase-catalyzed reaction
• 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
• The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency
• The prognosis of hyperlysinemia: an interim report
• The significance of hyperpipecolatemia in Zellweger syndrome
• Unusual Aggregates Formed by the Self-Assembly of Proline, Hydroxyproline, and Lysine