Department of Pediatrics
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A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency.
Human gene therapy Jan, 2002 | Pubmed ID: 11779420
Mental Retardation Research Center: Children's Hospital of Philadelphia & University of Pennsylvania.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience Jun-Aug, 2002 | Pubmed ID: 12175883
Regulation of urea synthesis by agmatine in the perfused liver: studies with 15N.
American journal of physiology. Endocrinology and metabolism Dec, 2002 | Pubmed ID: 12388162
Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat islets.
The Journal of biological chemistry Jan, 2003 | Pubmed ID: 12444083
Metabolism of brain amino acids following pentylenetetrazole treatment.
Epilepsy research Feb, 2003 | Pubmed ID: 12576176
Role of the glutamate dehydrogenase reaction in furnishing aspartate nitrogen for urea synthesis: studies in perfused rat liver with 15N.
The Biochemical journal Nov, 2003 | Pubmed ID: 12935293
A signaling role of glutamine in insulin secretion.
The Journal of biological chemistry Apr, 2004 | Pubmed ID: 14736887
Ketogenic diet, brain glutamate metabolism and seizure control.
Prostaglandins, leukotrienes, and essential fatty acids Mar, 2004 | Pubmed ID: 14769486
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.
The Journal of pediatrics Oct, 2004 | Pubmed ID: 15480384
Biosynthesis of agmatine in isolated mitochondria and perfused rat liver: studies with 15N-labelled arginine.
The Biochemical journal Jun, 2005 | Pubmed ID: 15656789
The role of mitochondrially bound arginase in the regulation of urea synthesis: studies with [U-15N4]arginine, isolated mitochondria, and perfused rat liver.
The Journal of biological chemistry May, 2005 | Pubmed ID: 15753084
Response of brain amino acid metabolism to ketosis.
Neurochemistry international Jul, 2005 | Pubmed ID: 15888376
Brain amino acid requirements and toxicity: the example of leucine.
The Journal of nutrition Jun, 2005 | Pubmed ID: 15930465
Botulinum toxin type a injections to salivary glands: combination with single event multilevel chemoneurolysis in 2 children with severe spastic quadriplegic cerebral palsy.
Archives of physical medicine and rehabilitation Jan, 2006 | Pubmed ID: 16401453
Agmatine stimulates hepatic fatty acid oxidation: a possible mechanism for up-regulation of ureagenesis.
The Journal of biological chemistry Mar, 2006 | Pubmed ID: 16452488
Short-term fasting, seizure control and brain amino acid metabolism.
Neurochemistry international May-Jun, 2006 | Pubmed ID: 16510212
Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice.
The Journal of biological chemistry Jun, 2006 | Pubmed ID: 16574664
Ifosfamide-induced nephrotoxicity: mechanism and prevention.
Cancer research Aug, 2006 | Pubmed ID: 16885387
Energy balance and the accuracy of reported energy intake in preadolescent children with cystic fibrosis.
The American journal of clinical nutrition Sep, 2006 | Pubmed ID: 16960165
Evaluation of formulas for calculating total energy requirements of preadolescent children with cystic fibrosis.
The American journal of clinical nutrition Jan, 2007 | Pubmed ID: 17209190
The ketogenic diet and brain metabolism of amino acids: relationship to the anticonvulsant effect.
Annual review of nutrition , 2007 | Pubmed ID: 17444813
Beyond aerobic glycolysis: transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis.
Proceedings of the National Academy of Sciences of the United States of America Dec, 2007 | Pubmed ID: 18032601
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.
Molecular genetics and metabolism May, 2008 | Pubmed ID: 18262815
3-isobutylmethylxanthine inhibits hepatic urea synthesis: protection by agmatine.
The Journal of biological chemistry May, 2008 | Pubmed ID: 18375388
N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.
Pediatric research Aug, 2008 | Pubmed ID: 18414145
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
PLoS genetics Apr, 2008 | Pubmed ID: 18437205
Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shunt.
The Journal of biological chemistry Jun, 2008 | Pubmed ID: 18445600
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Molecular genetics and metabolism Aug, 2008 | Pubmed ID: 18524659
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Molecular genetics and metabolism Aug, 2008 | Pubmed ID: 18562231
Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addiction.
Proceedings of the National Academy of Sciences of the United States of America Dec, 2008 | Pubmed ID: 19033189
Ketosis and brain handling of glutamate, glutamine, and GABA.
Epilepsia Nov, 2008 | Pubmed ID: 19049594
Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.
Molecular genetics and metabolism Dec, 2009 | Pubmed ID: 19660971
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
The Journal of pediatrics Mar, 2010 | Pubmed ID: 20056241
Inflammation-induced preterm birth alters neuronal morphology in the mouse fetal brain.
Journal of neuroscience research Jul, 2010 | Pubmed ID: 20155801
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Molecular genetics and metabolism , 2010 | Pubmed ID: 20188616
N-acetylglutamate synthase: structure, function and defects.
Molecular genetics and metabolism , 2010 | Pubmed ID: 20303810
Measuring in vivo ureagenesis with stable isotopes.
Molecular genetics and metabolism , 2010 | Pubmed ID: 20338795
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.
Pediatrics Jul, 2010 | Pubmed ID: 20566609
Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase.
The Journal of biological chemistry Jun, 2011 | Pubmed ID: 21540182
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
Human mutation Oct, 2011 | Pubmed ID: 21681857
The glutamate transporter, GLAST, participates in a macromolecular complex that supports glutamate metabolism.
Neurochemistry international Jan, 2012 | Pubmed ID: 22306776
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