Marc Yudkoff

A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency.

Mental Retardation Research Center: Children's Hospital of Philadelphia & University of Pennsylvania.

Regulation of urea synthesis by agmatine in the perfused liver: studies with 15N.

Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat islets.

Metabolism of brain amino acids following pentylenetetrazole treatment.

Role of the glutamate dehydrogenase reaction in furnishing aspartate nitrogen for urea synthesis: studies in perfused rat liver with 15N.

A signaling role of glutamine in insulin secretion.

Ketogenic diet, brain glutamate metabolism and seizure control.

Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.

Biosynthesis of agmatine in isolated mitochondria and perfused rat liver: studies with 15N-labelled arginine.

The role of mitochondrially bound arginase in the regulation of urea synthesis: studies with [U-15N4]arginine, isolated mitochondria, and perfused rat liver.

Response of brain amino acid metabolism to ketosis.

Brain amino acid requirements and toxicity: the example of leucine.

Botulinum toxin type a injections to salivary glands: combination with single event multilevel chemoneurolysis in 2 children with severe spastic quadriplegic cerebral palsy.

Agmatine stimulates hepatic fatty acid oxidation: a possible mechanism for up-regulation of ureagenesis.

Short-term fasting, seizure control and brain amino acid metabolism.

Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice.

Ifosfamide-induced nephrotoxicity: mechanism and prevention.

Energy balance and the accuracy of reported energy intake in preadolescent children with cystic fibrosis.

Evaluation of formulas for calculating total energy requirements of preadolescent children with cystic fibrosis.

The ketogenic diet and brain metabolism of amino acids: relationship to the anticonvulsant effect.

Beyond aerobic glycolysis: transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis.

1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.

3-isobutylmethylxanthine inhibits hepatic urea synthesis: protection by agmatine.

N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

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.

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.

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addiction.

Ketosis and brain handling of glutamate, glutamine, and GABA.

Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

Inflammation-induced preterm birth alters neuronal morphology in the mouse fetal brain.

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.

N-acetylglutamate synthase: structure, function and defects.

Measuring in vivo ureagenesis with stable isotopes.

N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.

Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase.

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.

The glutamate transporter, GLAST, participates in a macromolecular complex that supports glutamate metabolism.