Mendel Tuchman

Mendel Tuchman

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Mendel Tuchman

Mendel Tuchman

Publications by authors named "Mendel Tuchman"

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AMP-activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake.

J Inherit Metab Dis 2019 Nov 1;42(6):1088-1096. Epub 2019 Aug 1.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, District of Columbia.

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http://dx.doi.org/10.1002/jimd.12133DOI Listing
November 2019

Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets.

Biology (Basel) 2018 Jun 12;7(2). Epub 2018 Jun 12.

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

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http://dx.doi.org/10.3390/biology7020034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022934PMC
June 2018

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Hum Mutat 2018 04 16;39(4):527-536. Epub 2018 Jan 16.

Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/humu.23394DOI Listing
April 2018

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Mol Genet Metab 2017 03 8;120(3):198-206. Epub 2016 Dec 8.

Center for Genetic Medicine Research, Department of Integrative Systems Biology, Children's Research Institute, Children's National Health System, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346444PMC
March 2017

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

Mol Genet Metab 2016 12 13;119(4):307-310. Epub 2016 Oct 13.

Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2016.10.004DOI Listing
December 2016

From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases.

Int J Mol Sci 2015 Aug 12;16(8):18836-64. Epub 2015 Aug 12.

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

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http://dx.doi.org/10.3390/ijms160818836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581275PMC
August 2015

A longitudinal study of urea cycle disorders.

Mol Genet Metab 2014 Sep-Oct;113(1-2):127-30. Epub 2014 Aug 10.

Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4178008PMC
June 2015

The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms.

Int J Mol Sci 2015 Jun 9;16(6):13004-22. Epub 2015 Jun 9.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, the George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.3390/ijms160613004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490483PMC
June 2015

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

J Genet Genomics 2015 May 19;42(5):181-94. Epub 2015 May 19.

Department of Integrative Systems Biology, Center for Genetic Medicine Research, Children's National Health System, Washington DC 20010, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2015.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565140PMC
May 2015

Structures of the N-acetyltransferase domain of Xylella fastidiosa N-acetyl-L-glutamate synthase/kinase with and without a His tag bound to N-acetyl-L-glutamate.

Acta Crystallogr F Struct Biol Commun 2015 Jan 1;71(Pt 1):86-95. Epub 2015 Jan 1.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1107/S2053230X14026788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4304755PMC
January 2015

Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase.

PLoS One 2014 22;9(1):e85597. Epub 2014 Jan 22.

Department of Biological Sciences, Rowan University, Glassboro, New Jersey, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085597PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899043PMC
December 2014

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

Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms.

PLoS One 2013 24;8(7):e70369. Epub 2013 Jul 24.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0070369PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722096PMC
February 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

Structure and function of Escherichia coli RimK, an ATP-grasp fold, L-glutamyl ligase enzyme.

Proteins 2013 Oct 22;81(10):1847-54. Epub 2013 Jul 22.

Department of Integrative Systems Biology, Center for Genetic Medicine Research, Children's National Medical Center, The George Washington University, Washington, DC, 20010.

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http://dx.doi.org/10.1002/prot.24311DOI Listing
October 2013

Structure of N-acetyl-L-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor L-arginine bound.

Biochem Biophys Res Commun 2013 Aug 10;437(4):585-90. Epub 2013 Jul 10.

Center for Genetic Medicine Research, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.bbrc.2013.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754781PMC
August 2013

Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.

J Pediatr 2013 Feb 15;162(2):324-9.e1. Epub 2012 Aug 15.

Center for Genetic Medicine and Center for Clinical and Community Research, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1016/j.jpeds.2012.06.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440324PMC
February 2013

Structure of the complex of Neisseria gonorrhoeae N-acetyl-L-glutamate synthase with a bound bisubstrate analog.

Biochem Biophys Res Commun 2013 Jan 20;430(4):1253-8. Epub 2012 Dec 20.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.bbrc.2012.12.064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558559PMC
January 2013

Transcriptional regulation of N-acetylglutamate synthase.

PLoS One 2012 27;7(2):e29527. Epub 2012 Feb 27.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029527PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287996PMC
August 2012

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.

Mol Genet Metab 2012 Jun 17;106(2):160-8. Epub 2012 Mar 17.

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

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http://dx.doi.org/10.1016/j.ymgme.2012.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356441PMC
June 2012

Crystal structure and biochemical properties of putrescine carbamoyltransferase from Enterococcus faecalis: Assembly, active site, and allosteric regulation.

Proteins 2012 May 13;80(5):1436-47. Epub 2012 Feb 13.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, District of Columbia 20010, USA.

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http://dx.doi.org/10.1002/prot.24042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526856PMC
May 2012

A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris.

PLoS One 2011 12;6(12):e28825. Epub 2011 Dec 12.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0028825PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3236213PMC
April 2012

The Clinical and Translational Science Institute at Children's National: improving health through pediatric research.

Clin Transl Sci 2012 Feb 13;5(1):5-7. Epub 2011 Dec 13.

Children's National Medical Center, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1111/j.1752-8062.2011.00368.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439914PMC
February 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

The ygeW encoded protein from Escherichia coli is a knotted ancestral catabolic transcarbamylase.

Proteins 2011 Jul 9;79(7):2327-34. Epub 2011 May 9.

Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, District of Columbia 20010, USA.

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http://dx.doi.org/10.1002/prot.23043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115391PMC
July 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
Publisher Site
http://dx.doi.org/10.1074/jbc.M110.209023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121350PMC
June 2011

Reversible post-translational carboxylation modulates the enzymatic activity of N-acetyl-L-ornithine transcarbamylase.

Biochemistry 2010 Aug;49(32):6887-95

Research Center for Genetic Medicine and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1021/bi1007386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2959125PMC
August 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

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

Mechanism of allosteric inhibition of N-acetyl-L-glutamate synthase by L-arginine.

J Biol Chem 2009 Feb 18;284(8):4873-80. Epub 2008 Dec 18.

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

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http://dx.doi.org/10.1074/jbc.M805348200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643497PMC
February 2009

Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods.

BMC Biochem 2008 Sep 18;9:24. Epub 2008 Sep 18.

Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1186/1471-2091-9-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566978PMC
September 2008

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.

Hepatol Int 2008 Sep 7;2(3):390-4. Epub 2008 May 7.

Departments of Orofacial Sciences and Pediatrics, and Institute of Human Genetics, University of California San Francisco, 513 Parnassus Ave., Box 0442, San Francisco, CA, 94143, USA,

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http://dx.doi.org/10.1007/s12072-008-9078-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716892PMC
September 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

The crystal structure of N-acetyl-L-glutamate synthase from Neisseria gonorrhoeae provides insights into mechanisms of catalysis and regulation.

J Biol Chem 2008 Mar 9;283(11):7176-84. Epub 2008 Jan 9.

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/10.1074/jbc.M707678200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099063PMC
March 2008

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.

Hum Mutat 2007 Aug;28(8):754-9

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

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http://dx.doi.org/10.1002/humu.20518DOI Listing
August 2007

A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase.

BMC Biochem 2007 Apr 10;8. Epub 2007 Apr 10.

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/10.1186/1471-2091-8-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1865377PMC
April 2007

Structure of a novel N-acetyl-L-citrulline deacetylase from Xanthomonas campestris.

Biophys Chem 2007 Mar 5;126(1-3):86-93. Epub 2006 Jun 5.

Children's Research Institute, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC 20010-2970, USA.

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http://dx.doi.org/10.1016/j.bpc.2006.05.013DOI Listing
March 2007

Expression, crystallization and preliminary crystallographic studies of a novel bifunctional N-acetylglutamate synthase/kinase from Xanthomonas campestris homologous to vertebrate N-acetylglutamate synthase.

Acta Crystallogr Sect F Struct Biol Cryst Commun 2006 Dec 30;62(Pt 12):1218-22. Epub 2006 Nov 30.

Children's National Medical Center, The George Washington University, 111 Michigan Avenue, Washington, DC 20010, USA.

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http://dx.doi.org/10.1107/S1744309106044101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2225375PMC
December 2006

Structure and catalytic mechanism of a novel N-succinyl-L-ornithine transcarbamylase in arginine biosynthesis of Bacteroides fragilis.

J Biol Chem 2006 Jul 16;281(29):20623-31. Epub 2006 May 16.

Children's Research Institute, Children's National Medical Center, George Washington University, Washington, D. C. 20010, USA.

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http://dx.doi.org/10.1074/jbc.M601229200DOI Listing
July 2006

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

Hum Mutat 2006 Jul;27(7):626-32

College of Life Science, University of Maryland, College Park, Maryland, USA.

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http://doi.wiley.com/10.1002/humu.20339
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http://dx.doi.org/10.1002/humu.20339DOI Listing
July 2006

Acetylornithine transcarbamylase: a novel enzyme in arginine biosynthesis.

J Bacteriol 2006 Apr;188(8):2974-82

Children's Research Institute, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1128/JB.188.8.2974-2982.2006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1446984PMC
April 2006

Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.

Mol Genet Metab 2006 Mar;87(3):226-32

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.2005.10.003DOI Listing
March 2006

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.

Mol Genet Metab 2005 Dec 26;86(4):431-40. Epub 2005 Oct 26.

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

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http://dx.doi.org/10.1016/j.ymgme.2005.08.013DOI Listing
December 2005

Health and economic benefits of well-designed evaluations: some lessons from evaluating neuroblastoma screening.

J Natl Cancer Inst 2005 Aug;97(15):1118-24

Department of Economics, McGill University, 855 Sherbrooke W., Montreal, Quebec, H3A 2T7, Canada.

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http://dx.doi.org/10.1093/jnci/dji203DOI Listing
August 2005

Hyperammonemia: are the burdens too grave? Case study.

Authors:
Mendel Tuchman

Ethics Intellect Disabil 2004 ;8(1):1, 3

Center for Clinical Research and Experimental Therapeutics, Children's Research Institute, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010-2970, USA.

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July 2005

Crystal structure of N-acetylornithine transcarbamylase from Xanthomonas campestris: a novel enzyme in a new arginine biosynthetic pathway found in several eubacteria.

J Biol Chem 2005 Apr 24;280(15):14366-9. Epub 2005 Feb 24.

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

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http://dx.doi.org/10.1074/jbc.C500005200DOI Listing
April 2005

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.

Hum Mutat 2005 Mar;25(3):293-8

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/10.1002/humu.20146DOI Listing
March 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

Mammalian N-acetylglutamate synthase.

Mol Genet Metab 2004 Apr;81 Suppl 1:S4-11

Children's Research Institute, Children's National Medical Center, The George Washington University, 111 Michigan Ave NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.10.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031861PMC
April 2004

Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers.

Mol Genet Metab 2004 Apr;81 Suppl 1:S67-73

CPMC Research Pharmacy, Columbia University and New York State Psychiatric Institute Pharmacy, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.12.011DOI Listing
April 2004

Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.

AJNR Am J Neuroradiol 2003 Jun-Jul;24(6):1184-7

Neuroradiology Section, Department of Radiology, University of California-San Francisco, San Francisco, CA, USA.

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October 2003

Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).

Biol Psychiatry 2003 Oct;54(7):763-8

Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97201, USA.

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http://dx.doi.org/10.1016/s0006-3223(03)00113-6DOI Listing
October 2003

N-acetylglutamate and its changing role through evolution.

Biochem J 2003 Jun;372(Pt 2):279-90

Children's Research Institute, Children's National Medical Center, the George Washington University, 111 Michigan Ave NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1042/BJ20030002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223426PMC
June 2003

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.

Hum Genet 2003 Apr 20;112(4):364-8. Epub 2003 Feb 20.

Children's Research Institute, Children's National Medical Center, The George Washington University, 111 Michigan Avenue NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1007/s00439-003-0909-5DOI Listing
April 2003

Cloning and expression of the human N-acetylglutamate synthase gene.

Biochem Biophys Res Commun 2002 Dec;299(4):581-6

Children's Research Institute, Children's National Medical Center, The George Washington University, 111 Michigan Ave NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/s0006-291x(02)02696-7DOI Listing
December 2002

Crystal structure of a transcarbamylase-like protein from the anaerobic bacterium Bacteroides fragilis at 2.0 A resolution.

J Mol Biol 2002 Jul;320(4):899-908

Children's Research Institute, Children's National Medical Center, 111 Michigan Avenue N.W., Washington, DC 20010-2970, USA.

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http://dx.doi.org/10.1016/S0022-2836(02)00539-9DOI Listing
July 2002

Identification, cloning and expression of the mouse N-acetylglutamate synthase gene.

Biochem J 2002 Jun;364(Pt 3):825-31

Children's Research Institute, Children's National Medical Center, George Washington University, 111 Michigan Ave NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1042/BJ20020161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1222632PMC
June 2002

Screening of infants and mortality due to neuroblastoma.

N Engl J Med 2002 Apr;346(14):1041-6

AFLAC Cancer Center, Emory University and Children's Healthcare of Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1056/NEJMoa012387DOI Listing
April 2002

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Hum Mutat 2002 Feb;19(2):93-107

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

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http://dx.doi.org/10.1002/humu.10035DOI Listing
February 2002