Marc Yudkoff

Marc Yudkoff

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Marc Yudkoff

Publications by authors named "Marc Yudkoff"

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Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.

Orphanet J Rare Dis 2019 Aug 14;14(1):198. Epub 2019 Aug 14.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s13023-019-1129-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692931PMC
August 2019

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.

JIMD Rep 2019 6;44:103-107. Epub 2018 Sep 6.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/8904_2018_132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323011PMC
September 2018

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

J Inherit Metab Dis 2018 03 20;41(2):157-168. Epub 2017 Nov 20.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10545-017-0111-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832583PMC
March 2018

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

Genet Med 2017 08 2;19(8):926-935. Epub 2017 Feb 2.

Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2016.214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082364PMC
August 2017

Interactions in the Metabolism of Glutamate and the Branched-Chain Amino Acids and Ketoacids in the CNS.

Authors:
Marc Yudkoff

Neurochem Res 2017 Jan 1;42(1):10-18. Epub 2016 Oct 1.

Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s11064-016-2057-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5285401PMC
January 2017

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Mol Genet Metab 2016 Jan 14;117(1):19-26. Epub 2015 Nov 14.

Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children's Hospital Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.11.007DOI Listing
January 2016

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI Listing
September 2015

Regulation of brain glutamate metabolism by nitric oxide and S-nitrosylation.

Sci Signal 2015 Jul 7;8(384):ra68. Epub 2015 Jul 7.

Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA. Division of Neonatology, Department of Pediatrics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA. Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://stke.sciencemag.org/lookup/doi/10.1126/scisignal.aaa4
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http://dx.doi.org/10.1126/scisignal.aaa4312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746709PMC
July 2015

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

J Pediatr 2014 Aug 29;165(2):401-403.e3. Epub 2014 May 29.

Center for Genetic Medicine Research, Children's National Health System, The George Washington University, Washington, DC.

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http://dx.doi.org/10.1016/j.jpeds.2014.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111993PMC
August 2014

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.

Mol Genet Metab 2013 Sep-Oct;110(1-2):145-52. Epub 2013 Jul 19.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812452PMC
March 2014

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

Mol Genet Metab 2014 Mar 27;111(3):331-341. Epub 2013 Dec 27.

Division of Human Genetics, The Children's Hospital of Philadelphia, and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130042
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http://dx.doi.org/10.1016/j.ymgme.2013.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947636PMC
March 2014

Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.

J Pediatr Biochem 2014 Jan;4(1):57-63

Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.3233/JPB-140106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952002PMC
January 2014

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

Neurochem Int 2012 Sep 28;61(4):566-74. Epub 2012 Jan 28.

Children's Hospital of Philadelphia Research Institute, University of Pennsylvania, Philadelphia, PA 19104, United States.

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http://dx.doi.org/10.1016/j.neuint.2012.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350823PMC
September 2012

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.

Hum Mutat 2011 Oct 9;32(10):1153-60. Epub 2011 Sep 9.

Research Center for Genetic Medicine, Children's National Medical Center, The George Washington University, Washington, DC, USA.

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http://dx.doi.org/10.1002/humu.21553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976964PMC
October 2011

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

J Biol Chem 2011 Jun 3;286(25):22055-68. Epub 2011 May 3.

Division of Child Development, Rehabilitation Medicine, and Metabolic Disease, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M110.209023
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http://dx.doi.org/10.1074/jbc.M110.209023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121350PMC
June 2011

Stable isotopic profiling of intermediary metabolic flux in developing and adult stage Caenorhabditis elegans.

J Vis Exp 2011 Feb 27(48). Epub 2011 Feb 27.

Department of Pediatrics, The Children's Hospital of Philadelphia, USA.

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http://dx.doi.org/10.3791/2288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197386PMC
February 2011

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

J Neurosci Res 2010 Jul;88(9):1872-81

Maternal and Child Health Research Program, Department of Obstetrics and Gynecology, Center for Research on Reproduction and Women's Health, University of Pennsylvania, Philadelphia, PA 19104-6142, USA.

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http://dx.doi.org/10.1002/jnr.22368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895318PMC
July 2010

N-acetylglutamate synthase: structure, function and defects.

Mol Genet Metab 2010 26;100 Suppl 1:S13-9. Epub 2010 Feb 26.

The Children's Research Institute, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876818PMC
July 2010

Measuring in vivo ureagenesis with stable isotopes.

Mol Genet Metab 2010 26;100 Suppl 1:S37-41. Epub 2010 Feb 26.

Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858793PMC
July 2010

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

Pediatrics 2010 Jul 21;126(1):e208-14. Epub 2010 Jun 21.

Research Center for Genetic Medicine, Children's National Medical Center, George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1542/peds.2010-0008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3297024PMC
July 2010

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

J Pediatr 2010 Mar 8;156(3):492-4. Epub 2010 Jan 8.

Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.jpeds.2009.10.031DOI Listing
March 2010

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

Mol Genet Metab 2009 Dec 14;98(4):325-30. Epub 2009 Jul 14.

Research Center for Genetic Medicine, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784258PMC
December 2009

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

Proc Natl Acad Sci U S A 2008 Dec 24;105(48):18782-7. Epub 2008 Nov 24.

Department of Cancer Biology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104-6160, USA.

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http://dx.doi.org/10.1073/pnas.0810199105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2596212PMC
December 2008

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

Epilepsia 2008 Nov;49 Suppl 8:73-5

Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01841.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722878PMC
November 2008

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

Mol Genet Metab 2008 Aug 17;94(4):397-402. Epub 2008 Jun 17.

Children's National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N.W., Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640937PMC
August 2008

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

Mol Genet Metab 2008 May 11;94(1):52-60. Epub 2008 Feb 11.

Department of Neurology, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486377PMC
May 2008

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

J Biol Chem 2008 May 28;283(22):15063-71. Epub 2008 Mar 28.

Children's Hospital of Philadelphia, Division of Child Development, Department of Pediatrics, University of Pennsylvania School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M800163200
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http://dx.doi.org/10.1074/jbc.M800163200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2397462PMC
May 2008

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

PLoS Genet 2008 Apr 25;4(4):e1000061. Epub 2008 Apr 25.

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2291193PMC
April 2008

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

Proc Natl Acad Sci U S A 2007 Dec 21;104(49):19345-50. Epub 2007 Nov 21.

Department of Cancer Biology, Abramson Cancer Center, University of Pennsylvania, Room 450, BRB II/III, 421 Curie Boulevard, Philadelphia, PA 19104-6160, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0709747104
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http://dx.doi.org/10.1073/pnas.0709747104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2148292PMC
December 2007

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

Annu Rev Nutr 2007 ;27:415-30

Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1146/annurev.nutr.27.061406.093722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237068PMC
November 2007

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

Am J Clin Nutr 2007 Jan;85(1):144-51

Divisions of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/ajcn/85.1.144DOI Listing
January 2007

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

Am J Clin Nutr 2006 Sep;84(3):523-30

Division of Gastroenterology, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/ajcn/84.3.523DOI Listing
September 2006

Ifosfamide-induced nephrotoxicity: mechanism and prevention.

Cancer Res 2006 Aug;66(15):7824-31

Children's Hospital of Philadelphia, Division of Child Development, Rehabilitation Medicine and Metabolic Disease, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
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http://dx.doi.org/10.1158/0008-5472.CAN-06-1043DOI Listing
August 2006

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

Neurochem Int 2006 May-Jun;48(6-7):650-6. Epub 2006 Feb 28.

Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S019701860600065
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http://dx.doi.org/10.1016/j.neuint.2006.01.008DOI Listing
June 2006

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

J Biol Chem 2006 Jun 30;281(22):15064-72. Epub 2006 Mar 30.

Division of Endocrinology, The Children's Hospital of Philadelphia and Diabetes Center, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1074/jbc.M600994200DOI Listing
June 2006

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

J Biol Chem 2006 Mar 1;281(13):8486-96. Epub 2006 Feb 1.

Children's Hospital of Philadelphia, Division of Child Development, Rehabilitation Medicine, and Metabolic Disease, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M506984200
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http://dx.doi.org/10.1074/jbc.M506984200DOI Listing
March 2006

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

Arch Phys Med Rehabil 2006 Jan;87(1):141-4

Department of Physical Medicine and Rehabilitation, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000399930501145
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http://dx.doi.org/10.1016/j.apmr.2005.08.112DOI Listing
January 2006

Response of brain amino acid metabolism to ketosis.

Neurochem Int 2005 Jul;47(1-2):119-28

Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S019701860500099
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http://dx.doi.org/10.1016/j.neuint.2005.04.014DOI Listing
July 2005

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

Biochem J 2005 Jun;388(Pt 2):419-25

Children's Hospital of Philadelphia, Division of Child Development and Rehabilitation Medicine, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://biochemj.org/lookup/doi/10.1042/BJ20041260
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http://dx.doi.org/10.1042/BJ20041260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1138948PMC
June 2005

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

J Nutr 2005 06;135(6 Suppl):1531S-8S

Children's Hospital of Philadelphia, Division of Child Development, Rehabilitation and Metabolic Disease, Department of Pediatrics, University of Pennsylvania School of Medicine, 19104, USA.

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http://dx.doi.org/10.1093/jn/135.6.1531SDOI Listing
June 2005

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

J Biol Chem 2005 May 7;280(18):17715-24. Epub 2005 Mar 7.

Children's Hospital of Philadelphia, Division of Child Development and Rehabilitation Medicine, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1074/jbc.M500607200DOI Listing
May 2005

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

J Pediatr 2004 Oct;145(4):552-4

Children's Research Institute, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.jpeds.2004.06.047DOI Listing
October 2004

A signaling role of glutamine in insulin secretion.

J Biol Chem 2004 Apr 20;279(14):13393-401. Epub 2004 Jan 20.

Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1074/jbc.M311502200DOI Listing
April 2004

Ketogenic diet, brain glutamate metabolism and seizure control.

Prostaglandins Leukot Essent Fatty Acids 2004 Mar;70(3):277-85

Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.plefa.2003.07.005DOI Listing
March 2004

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

Biochem J 2003 Nov;376(Pt 1):179-88

Division of Child Development and Rehabilitation Medicine, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1042/BJ20030997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223758PMC
November 2003

Metabolism of brain amino acids following pentylenetetrazole treatment.

Epilepsy Res 2003 Feb;53(1-2):151-62

Department of Pediatrics, Division of Child Development, School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, 34th Street and Civic Center Blvd, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/s0920-1211(02)00260-7DOI Listing
February 2003

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

J Biol Chem 2003 Jan 19;278(5):2853-8. Epub 2002 Nov 19.

Division of Endocrinology, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1074/jbc.M210577200DOI Listing
January 2003

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

Int J Dev Neurosci 2002 Jun-Aug;20(3-5):439

Children's Hospital of Philadelphia, 1 Children's Center, Philadelphia, PA 19104 4318, USA.

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http://dx.doi.org/10.1016/s0736-5748(02)00034-5DOI Listing
December 2002

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

Am J Physiol Endocrinol Metab 2002 Dec 13;283(6):E1123-34. Epub 2002 Aug 13.

Children's Hospital of Philadelphia and Division of Child Development and Rehabilitation, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.physiology.org/doi/10.1152/ajpendo.00246.2002
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http://dx.doi.org/10.1152/ajpendo.00246.2002DOI Listing
December 2002