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.

Authors:
Sandra K Heibel Peter J McGuire Nantaporn Haskins Himani D Majumdar Sree Rayavarapu Kanneboyina Nagaraju Yetrib Hathout Kristy Brown Mendel Tuchman Ljubica Caldovic

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

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Authors:
Nicholas Ah Mew Avital Cnaan Robert McCarter Henry Choi Penny Glass Katie Rice Louis Scavo Catherine W Gillespie George A Diaz Gerard T Berry Derek Wong Laura Konczal Shawn E McCandless Curtis R Coughlin Ii James D Weisfeld-Adams Can Ficicioglu Mark Yudkoff Gregory M Enns Uta Lichter-Konecki Renata Gallagher Mendel Tuchman

Transl Sci Rare Dis 2018 Dec 20;3(3-4):157-170. Epub 2018 Dec 20.

Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.3233/TRD-180031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311376PMC
December 2018

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Authors:
Monique Williams Alberto Burlina Laura Rubert Giulia Polo George J G Ruijter Myrthe van den Born Véronique Rüfenacht Nantaporn Haskins Laura J C M van Zutven Mendel Tuchman Jasper J Saris Johannes Häberle Ljubica Caldovic

Sci Rep 2018 10 18;8(1):15436. Epub 2018 Oct 18.

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

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http://dx.doi.org/10.1038/s41598-018-33457-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194121PMC
October 2018

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

Authors:
Dashuang Shi Ljubica Caldovic Mendel Tuchman

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.

Authors:
Yoon J Jang Abigail L LaBella Timothy P Feeney Nancy Braverman Mendel Tuchman Hiroki Morizono Nicholas Ah Mew Ljubica Caldovic

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.

Authors:
Dashuang Shi Gengxiang Zhao Nicholas Ah Mew Mendel Tuchman

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.

Authors:
Marli Dercksen Marinus Duran Lodewijk IJlst Wim Kulik Jos P N Ruiter Arno van Cruchten Mendel Tuchman Ronald J A Wanders

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.

Authors:
Dashuang Shi Norma M Allewell Mendel Tuchman

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.

Authors:
Mark L Batshaw Mendel Tuchman Marshall Summar Jennifer Seminara

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.

Authors:
Dashuang Shi Norma M Allewell Mendel Tuchman

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.

Authors:
Ljubica Caldovic Iman Abdikarim Sahas Narain Mendel Tuchman Hiroki Morizono

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.

Authors:
Gengxiang Zhao Zhongmin Jin Norma M Allewell Mendel Tuchman Dashuang Shi

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.

Authors:
Ljubica Caldovic Nantaporn Haskins Amy Mumo Himani Majumdar Mary Pinter Mendel Tuchman Alison Krufka

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.

Authors:
Nicholas Ah Mew Robert McCarter Yevgeny Daikhin Uta Lichter-Konecki Ilana Nissim Marc Yudkoff Mendel Tuchman

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.

Authors:
Gengxiang Zhao Zhongmin Jin Norma M Allewell Mendel Tuchman Dashuang Shi

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.

Authors:
Nicholas Ah Mew Marc Yudkoff Mendel Tuchman

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.

Authors:
Gengxiang Zhao Zhongmin Jin Yanli Wang Norma M Allewell Mendel Tuchman Dashuang Shi

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.

Authors:
Gengxiang Zhao Nantaporn Haskins Zhongmin Jin Norma M Allewell Mendel Tuchman Dashuang Shi

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.

Authors:
Nicholas Ah Mew Lauren Krivitzky Robert McCarter Mark Batshaw Mendel Tuchman

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.

Authors:
Gengxiang Zhao Norma M Allewell Mendel Tuchman Dashuang Shi

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.

Authors:
Sandra Kirsch Heibel Giselle Yvette Lopez Maria Panglao Sonal Sodha Leonardo Mariño-Ramírez Mendel Tuchman Ljubica Caldovic

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.

Authors:
Emilee Senkevitch Juan Cabrera-Luque Hiroki Morizono Ljubica Caldovic Mendel Tuchman

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.

Authors:
Dashuang Shi Xiaolin Yu Gengxiang Zhao Jeremy Ho Shennon Lu Norma M Allewell Mendel Tuchman

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.

Authors:
Dashuang Shi Yongdong Li Juan Cabrera-Luque Zhongmin Jin Xiaolin Yu Gengxiang Zhao Nantaporn Haskins Norma M Allewell Mendel Tuchman

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

Preparedness of the CTSA's structural and scientific assets to support the mission of the National Center for Advancing Translational Sciences (NCATS).

Authors:
Harry Shamoon David Center Pamela Davis Mendel Tuchman Henry Ginsberg Robert Califf David Stephens Thomas Mellman Joseph Verbalis Lee Nadler Anantha Shekhar Daniel Ford Robert Rizza Reza Shaker Kathleen Brady Barbara Murphy Bruce Cronstein Judith Hochman Philip Greenland Eric Orwoll Lawrence Sinoway Harry Greenberg Rebecca Jackson Barry Coller Eric Topol Lisa Guay-Woodford Marschall Runge Robert Clark Don McClain Harry Selker Curtis Lowery Steven Dubinett Lars Berglund Dan Cooper Gary Firestein S Clay Johnston Julian Solway James Heubi Ronald Sokol David Nelson Larry Tobacman Gary Rosenthal Lauren Aaronson Richard Barohn Philip Kern John Sullivan Thomas Shanley Bruce Blazar Richard Larson Garret FitzGerald Steven Reis Thomas Pearson Thomas Buchanan David McPherson Allan Brasier Robert Toto Mary Disis Marc Drezner Gordon Bernard John Clore Bradley Evanoff Julianne Imperato-McGinley Robert Sherwin Jill Pulley

Clin Transl Sci 2012 Apr 27;5(2):121-9. Epub 2012 Mar 27.

Albert Einstein College of Medicine (partnering with Montefi ore Medical Center)David Center.

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http://dx.doi.org/10.1111/j.1752-8062.2012.00401.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335735PMC
April 2012

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

Authors:
Jill Joseph Mary Purucker Kolaleh Eskandanian Mark Batshaw Mendel Tuchman

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.

Authors:
Sandra K Heibel Nicholas Ah Mew Ljubica Caldovic Yevgeny Daikhin Marc Yudkoff Mendel Tuchman

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.

Authors:
Yongdong Li Zhongmin Jin Xiaolin Yu Norma M Allewell Mendel Tuchman Dashuang Shi

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.

Authors:
Itzhak Nissim Oksana Horyn Ilana Nissim Yevgeny Daikhin Ljubica Caldovic Belen Barcelona Javier Cervera Mendel Tuchman Marc Yudkoff

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.

Authors:
Yongdong Li Xiaolin Yu Jeremy Ho David Fushman Norma M Allewell Mendel Tuchman Dashuang Shi

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

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

Authors:
Jennifer Seminara Mendel Tuchman Lauren Krivitzky Jeffrey Krischer Hye-Seung Lee Cynthia Lemons Matthias Baumgartner Stephen Cederbaum George A Diaz Annette Feigenbaum Renata C Gallagher Cary O Harding Douglas S Kerr Brendan Lanpher Brendan Lee Uta Lichter-Konecki Shawn E McCandless J Lawrence Merritt Mary Lou Oster-Granite Margretta R Seashore Tamar Stricker Marshall Summar Susan Waisbren Marc Yudkoff Mark L Batshaw

Mol Genet Metab 2010 10;100 Suppl 1:S97-105. Epub 2010 Feb 10.

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

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http://dx.doi.org/10.1016/j.ymgme.2010.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858794PMC
July 2010

N-acetylglutamate synthase: structure, function and defects.

Authors:
Ljubica Caldovic Nicholas Ah Mew Dashuang Shi Hiroki Morizono Marc Yudkoff Mendel Tuchman

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.

Authors:
Marc Yudkoff Nicholas Ah Mew Yevgeny Daikhin Oksana Horyn Ilana Nissim Itzhak Nissim Irma Payan Mendel Tuchman

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.

Authors:
Nicholas Ah Mew Robert McCarter Yevgeny Daikhin Itzhak Nissim Marc Yudkoff Mendel Tuchman

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

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.

Authors:
Sanae Numata Yoshiro Koda Kenji Ihara Tomo Sawada Yoshiyuki Okano Toshinobu Matsuura Fumio Endo Han-Wook Yoo Jose A Arranz Vicente Rubio Bendicht Wermuth Nicholas Ah Mew Mendel Tuchman Jason R Pinner Edwin P Kirk Makoto Yoshino

J Hum Genet 2010 Jan 6;55(1):18-22. Epub 2009 Nov 6.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka.

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http://dx.doi.org/10.1038/jhg.2009.113DOI Listing
January 2010

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

Authors:
Nicholas Ah Mew Irma Payan Yevgeny Daikhin Ilana Nissim Itzhak Nissim Mendel Tuchman Marc Yudkoff

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.

Authors:
Li Min Zhongmin Jin Ljubica Caldovic Hiroki Morizono Norma M Allewell Mendel Tuchman Dashuang Shi

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

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.

Authors:
Sabrina Mitchell Clint Ellingson Thomas Coyne Lynn Hall Meaghan Neill Natalie Christian Catherine Higham Steven F Dobrowolski Mendel Tuchman Marshall Summar

Hum Mutat 2009 Jan;30(1):56-60

Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.

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http://doi.wiley.com/10.1002/humu.20813
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http://dx.doi.org/10.1002/humu.20813DOI Listing
January 2009

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

Authors:
Nantaporn Haskins Maria Panglao Qiuhao Qu Himani Majumdar Juan Cabrera-Luque Hiroki Morizono Mendel Tuchman Ljubica Caldovic

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.

Authors:
Ophir D Klein Dana R Kostiner Kara Weisiger Ellen Moffatt Neal Lindeman Stephen Goodman Mendel Tuchman Seymour Packman

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

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

Authors:
Mendel Tuchman Ljubica Caldovic Yevgeny Daikhin Oksana Horyn Ilana Nissim Itzhak Nissim Mark Korson Barbara Burton Marc Yudkoff

Pediatr Res 2008 Aug;64(2):213-7

Children's Research Institute, Children's National Medical Center, George Washington University, Washington, DC 20052, USA.

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http://www.nature.com/doifinder/10.1203/PDR.0b013e318179454b
Publisher Site
http://dx.doi.org/10.1203/PDR.0b013e318179454bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640836PMC
August 2008

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

Authors:
Mendel Tuchman Brendan Lee Uta Lichter-Konecki Marshall L Summar Marc Yudkoff Stephen D Cederbaum Douglas S Kerr George A Diaz Margaretta R Seashore Hye-Seung Lee Robert J McCarter Jeffrey P Krischer Mark L Batshaw

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.

Authors:
Dashuang Shi Vatsala Sagar Zhongmin Jin Xiaolin Yu Ljubica Caldovic Hiroki Morizono Norma M Allewell Mendel Tuchman

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

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.

Authors:
Steven F Dobrowolski Clinton E Ellingson Ljubica Caldovic Mendel Tuchman

Hum Mutat 2007 Nov;28(11):1133-40

Idaho Technology, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1002/humu.20558DOI Listing
November 2007

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

Authors:
Ljubica Caldovic Hiroki Morizono Mendel Tuchman

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 single mutation in the active site swaps the substrate specificity of N-acetyl-L-ornithine transcarbamylase and N-succinyl-L-ornithine transcarbamylase.

Authors:
Dashuang Shi Xiaolin Yu Juan Cabrera-Luque Tony Y Chen Lauren Roth Hiroki Morizono Norma M Allewell Mendel Tuchman

Protein Sci 2007 Aug 28;16(8):1689-99. Epub 2007 Jun 28.

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

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http://dx.doi.org/10.1110/ps.072919907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2203365PMC
August 2007

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

Authors:
Qiuhao Qu Hiroki Morizono Dashuang Shi Mendel Tuchman Ljubica Caldovic

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.

Authors:
Dashuang Shi Xiaolin Yu Lauren Roth Mendel Tuchman Norma M Allewell

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.

Authors:
Dashuang Shi Ljubica Caldovic Zhongmin Jin Xiaolin Yu Qiuhao Qu Lauren Roth Hiroki Morizono Yetrib Hathout Norma M Allewell Mendel Tuchman

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

Structures of N-acetylornithine transcarbamoylase from Xanthomonas campestris complexed with substrates and substrate analogs imply mechanisms for substrate binding and catalysis.

Authors:
Dashuang Shi Xiaolin Yu Lauren Roth Hiroki Morizono Mendel Tuchman Norma M Allewell

Proteins 2006 Aug;64(2):532-42

Children's National Medical Center, Washington, DC 20010-2970, USA.

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http://dx.doi.org/10.1002/prot.21013DOI Listing
August 2006

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

Authors:
Dashuang Shi Hiroki Morizono Juan Cabrera-Luque Xiaolin Yu Lauren Roth Michael H Malamy Norma M Allewell Mendel Tuchman

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.

Authors:
Saori Yamaguchi Lisa L Brailey Hiroki Morizono Allen E Bale Mendel Tuchman

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.

Authors:
Hiroki Morizono Juan Cabrera-Luque Dashuang Shi Rene Gallegos Saori Yamaguchi Xiaolin Yu Norma M Allewell Michael H Malamy Mendel Tuchman

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.

Authors:
Ljubica Caldovic Giselle Y Lopez Nantaporn Haskins Maria Panglao Dashuang Shi Hiroki Morizono Mendel Tuchman

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.

Authors:
Hiroki Morizono Joelle E Woolston Marco Colombini Mendel Tuchman

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.

Authors:
Lee Soderstrom William G Woods Mark Bernstein Leslie L Robison Mendel Tuchman Bernard Lemieux

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

Expression, purification, crystallization and preliminary X-ray crystallographic studies of a novel acetylcitrulline deacetylase from Xanthomonas campestris.

Authors:
Dashuang Shi Xiaolin Yu Lauren Roth Hiroki Morizono Yetrib Hathout Norma M Allewell Mendel Tuchman

Acta Crystallogr Sect F Struct Biol Cryst Commun 2005 Jul 15;61(Pt 7):676-9. Epub 2005 Jun 15.

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

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http://dx.doi.org/10.1107/S1744309105018051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1952451PMC
July 2005

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

Authors:
Dashuang Shi Hiroki Morizono Xiaolin Yu Lauren Roth Ljubica Caldovic Norma M Allewell Michael H Malamy Mendel Tuchman

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

Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.

Authors:
Regina Ensenauer Mendel Tuchman Mounif El-Youssef Suresh Kotagal Michael B Ishitani Dietrich Matern Dusica Babovic-Vuksanovic

Mol Genet Metab 2005 Apr;84(4):363-6

Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500004
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http://dx.doi.org/10.1016/j.ymgme.2004.12.011DOI Listing
April 2005

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

Authors:
Ljubica Caldovic Hiroki Morizono Maria G Panglao Giselle Y Lopez Dashuang Shi Marshall L Summar Mendel Tuchman

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.

Authors:
Ljubica Caldovic Hiroki Morizono Yevgeny Daikhin Itzhak Nissim Robert J McCarter Marc Yudkoff Mendel Tuchman

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.

Authors:
Hiroki Morizono Ljubica Caldovic Dashuang Shi Mendel Tuchman

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.

Authors:
Robert B MacArthur Arman Altincatal Mendel Tuchman

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.

Authors:
Jun-ichi Takanashi A James Barkovich Sabrina F Cheng Kara Weisiger Carol O Zlatunich Christine Mudge Philip Rosenthal Mendel Tuchman Seymour Packman

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).

Authors:
K Michael Gibson Maneesh Gupta Phillip L Pearl Mendel Tuchman L Gilbert Vezina O Carter Snead Leo M E Smit Cornelis Jakobs

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.

Authors:
Ljubica Caldovic Mendel Tuchman

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.

Authors:
Ljubica Caldovic Hiroki Morizono Maria Gracia Panglao Sabrina F Cheng Seymour Packman Mendel Tuchman

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.

Authors:
Ljubica Caldovic Hiroki Morizono Maria Gracia Panglao Rene Gallegos Xiaolin Yu Dashuang Shi Michael H Malamy Norma M Allewell Mendel Tuchman

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.

Authors:
Dashuang Shi Rene Gallegos Joseph DePonte Hiroki Morizono Xiaolin Yu Norma M Allewell Michael Malamy Mendel Tuchman

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.

Authors:
Ljubica Caldovic Hiroki Morizono Xiaolin Yu Mark Thompson Dashuang Shi Rene Gallegos Norma M Allewell Michael H Malamy Mendel Tuchman

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.

Authors:
William G Woods Ru-Nie Gao Jonathan J Shuster Leslie L Robison Mark Bernstein Sheila Weitzman Greta Bunin Isra Levy Josee Brossard Geoffrey Dougherty Mendel Tuchman Bernard Lemieux

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.

Authors:
Mendel Tuchman Naser Jaleel Hiroki Morizono Lisa Sheehy Michael G Lynch

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