(Q37708713)

22 August 2017

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title

Current concepts in the pathogenesis of urea cycle disorders (English)

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22 August 2017

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Olivier Braissant

1

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22 August 2017

publication date

14 February 2010

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Molecular Genetics and Metabolism

22 August 2017

published in

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22 August 2017

volume

100 Suppl 1

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22 August 2017

page(s)

S3-S12

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Hyperammonemia-induced toxicity for the developing central nervous system

22 August 2017

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7 January 2021

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An autopsy case of ornithine transcarbamylase deficiency

7 January 2021

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Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero

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Ornithine carbamoyl transferase deficiency: a neuropathological study

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Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy

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Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency

7 January 2021

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Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency

7 January 2021

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Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency

7 January 2021

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Clinical features of carbamyl phosphate synthetase-I deficiency in an adult

7 January 2021

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Two cases of citrullinaemia presenting with stroke

7 January 2021

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Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis

7 January 2021

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Oligodendrocytes within astrocytes ("emperipolesis") in the cerebral white matter in hepatic and hypoglycemic encephalopathy.

7 January 2021

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Ornithine Transcarbamylase Deficiency in Mutant Mice I. Studies on the Characterization of Enzyme Defect and Suitability as Animal Model of Human Disease

7 January 2021

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The molecular basis of the sparse fur mouse mutation

7 January 2021

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Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation

7 January 2021

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A new allele of the sparse fur gene in the mouse

7 January 2021

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Sparse-fur (spf) mouse as a model of hyperammonemia: alterations in the neurotransmitter systems.

7 January 2021

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Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice

7 January 2021

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Dendritic alterations in cortical pyramidal cells in the sparse fur mouse

7 January 2021

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Contrasting features of urea cycle disorders in human patients and knockout mouse models

7 January 2021

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Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene

7 January 2021

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Ornithine deficiency in the arginase double knockout mouse

7 January 2021

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Mouse model for human arginase deficiency

7 January 2021

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A mouse model of argininosuccinic aciduria: biochemical characterization

7 January 2021

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Chronic moderate hyperammonemia impairs active and passive avoidance behavior and conditional discrimination learning in rats

7 January 2021

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Hyperammonemia impairs NMDA receptor-dependent long-term potentiation in the CA1 of rat hippocampus in vitro.

7 January 2021

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Quinolinate in Brain and Cerebrospinal Fluid in Rat Models of Congenital Hyperammonemia

7 January 2021

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A simple animal model of hyperammonemia

7 January 2021

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GeneChip analysis shows altered mRNA expression of transcripts of neurotransmitter and signal transduction pathways in the cerebral cortex of portacaval shunted rats

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Effects of ammonia on glutamate transporter (GLAST) protein and mRNA in cultured rat cortical astrocytes

7 January 2021

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Oxidative stress and mitogen-activated protein kinase phosphorylation mediate ammonia-induced cell swelling and glutamate uptake inhibition in cultured astrocytes.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Ammonia induces MK-801-sensitive nitration and phosphorylation of protein tyrosine residues in rat astrocytes

7 January 2021

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Taurine rescues hippocampal long-term potentiation from ammonia-induced impairment

7 January 2021

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Hyperammonemia: regulation of argininosuccinate synthetase and argininosuccinate lyase genes in aggregating cell cultures of fetal rat brain

7 January 2021

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Ammonium-induced impairment of axonal growth is prevented through glial creatine.

7 January 2021

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Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency.

7 January 2021

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Ornithine carbamoyl transferase deficiency: findings, models and problems

7 January 2021

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Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency

7 January 2021

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Accumulation of large neutral amino acids in the brain of sparse-fur mice at hyperammonemic state

7 January 2021

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Ammonia toxicity to the brain and creatine

7 January 2021

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Energy metabolism in brain cells: effects of elevated ammonia concentrations

7 January 2021

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Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency

7 January 2021

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Almost all about citrulline in mammals

7 January 2021

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Argininosuccinate synthetase from the urea cycle to the citrulline–NO cycle

7 January 2021

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Arginine metabolism: nitric oxide and beyond

7 January 2021

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Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism

7 January 2021

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7 January 2021

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Nitric oxide in hepatic encephalopathy and hyperammonemia

7 January 2021

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Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice

7 January 2021

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Increase of Tryptophan and 5-Hydroxyindole Acetic Acid in the Brain of Ornithine Carbamoyltransferase Deficient Sparse-Fur Mice

7 January 2021

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Effect of ammonia on astrocytic glutamate uptake/release mechanisms.

7 January 2021

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Reduction in the MK-801 binding sites of the NMDA sub-type of glutamate receptor in a mouse model of congenital hyperammonemia: prevention by acetyl-L-carnitine

7 January 2021

1 reference

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Extracellular brain glutamate during acute liver failure and during acute hyperammonemia simulating acute liver failure: an experimental study based on in vivo brain dialysis

7 January 2021

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Acute insult of ammonia leads to calcium-dependent glutamate release from cultured astrocytes, an effect of pH.

7 January 2021

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Role of NMDA receptors in acute liver failure and ammonia toxicity: therapeutical implications.

7 January 2021

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Quinolinic acid in children with congenital hyperammonemia

7 January 2021

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Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.

7 January 2021

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Differential vulnerability of central neurons of the rat to quinolinic acid

7 January 2021

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Characterization of N-methyl-d-aspartate receptors in the hyperammonemic sparse fur mouse

7 January 2021

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Mechanisms of ammonia-induced cell death in rat cortical neurons: roles of NMDA receptors and glutathione.

7 January 2021

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Ammonia-mediated LTP inhibition: effects of NMDA receptor antagonists and L-carnitine

7 January 2021

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Glutamatergic and gabaergic neurotransmission and neuronal circuits in hepatic encephalopathy

7 January 2021

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Evidence for cholinergic neuronal loss in brain in congenital ornithine transcarbamylase deficiency

7 January 2021

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Central muscarinic cholinergic M1 and M2 receptor changes in congenital ornithine transcarbamylase deficiency

7 January 2021

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Continuing the search for cholinergic factors in cognitive dysfunction

7 January 2021

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Behavior management of feeding disturbances in urea cycle and organic acid disorders

7 January 2021

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Brain serotonin2 and serotonin1A receptors are altered in the congenitally hyperammonemic sparse fur mouse

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Progressive decrease of cerebral cytochrome C oxidase activity in sparse-fur mice: role of acetyl-L-carnitine in restoring the ammonia-induced cerebral energy depletion

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Brain alpha-ketoglutarate dehydrogenase complex: kinetic properties, regional distribution, and effects of inhibitors

7 January 2021

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Lack of correlation between glutamate-induced depletion of ATP and neuronal death in primary cultures of cerebellum

7 January 2021

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Ammonia induces the mitochondrial permeability transition in primary cultures of rat astrocytes

7 January 2021

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Inhibition of the mitochondrial permeability transition by creatine kinase substrates. Requirement for microcompartmentation.

7 January 2021

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The role of creatine kinase in inhibition of mitochondrial permeability transition

7 January 2021

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Nitroarginine, an inhibitor of nitric oxide synthase, prevents changes in superoxide radical and antioxidant enzymes induced by ammonia intoxication

7 January 2021

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Superoxide production and antioxidant enzymes in ammonia intoxication in rats.

7 January 2021

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Blocking NMDA receptors prevents the oxidative stress induced by acute ammonia intoxication

7 January 2021

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Ammonia-induced production of free radicals in primary cultures of rat astrocytes

7 January 2021

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Hypoosmotic swelling and ammonia increase oxidative stress by NADPH oxidase in cultured astrocytes and vital brain slices

7 January 2021

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Creatine and creatinine metabolism

7 January 2021

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Creatine: endogenous metabolite, dietary, and therapeutic supplement

7 January 2021

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Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study

7 January 2021

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Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Protective Effect of the Energy Precursor Creatine Against Toxicity of Glutamate and β-Amyloid in Rat Hippocampal Neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Anoxic ATP depletion in neonatal mice brainstem is prevented by creatine supplementation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Effect of acetyl-L-carnitine on recovery of brain phosphorus metabolites and lactic acid level during reperfusion after cerebral ischemia in the rat--study by 13P- and 1H-NMR spectroscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Mechanisms of ischemic neuroprotection by acetyl-L-carnitine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain

7 January 2021

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Arginine metabolism and the synthesis of nitric oxide in the nervous system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Brain regional alterations in the modulation of the glutamate-nitric oxide-cGMP pathway in liver cirrhosis. Role of hyperammonemia and cell types involved.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Neurons exposed to ammonia reproduce the differential alteration in nitric oxide modulation of guanylate cyclase in the cerebellum and cortex of patients with liver cirrhosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Nitric oxide, cell bioenergetics and neurodegeneration.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Limited capacity for ammonia removal by brain in chronic liver failure: potential role of nitric oxide

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

NMDA receptors in hyperammonemia and hepatic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Effects of acute hyperammonemia in vivo on oxidative metabolism in nonsynaptic rat brain mitochondria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Activation of NMDA receptor mediates the toxicity of ammonia and the effects of ammonia on the microtubule-associated protein MAP-2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells

7 January 2021

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CNTF protects oligodendrocytes from ammonia toxicity: intracellular signaling pathways involved

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

NH3 and NH4+ permeability in aquaporin-expressing Xenopus oocytes

7 January 2021

1 reference

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Impaired cognitive performance in ornithine transcarbamylase-deficient mice on arginine-free diet.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

Cognitive development in children with inborn errors of urea synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.010

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2010.02.010

1 reference

22 August 2017

1 reference