Marshall Summar

Marshall Summar

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Marshall Summar

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Combined L-citrulline and tetrahydrobiopterin therapy improves NO signaling and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs.

Am J Physiol Lung Cell Mol Physiol 2020 Feb 19. Epub 2020 Feb 19.

Department of Pediatrics, University of Utah Health, United States.

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http://dx.doi.org/10.1152/ajplung.00280.2019DOI Listing
February 2020

Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse.

Am J Med Genet A 2019 Dec 29;179(12):2329-2332. Epub 2019 Sep 29.

Child Protection Pediatrician, Child & Adolescent Protection Center, George Washington University, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61348DOI Listing
December 2019

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

Mol Genet Metab 2019 12 17;128(4):444-451. Epub 2019 Oct 17.

Children's National Rare Disease Institute, Children's National Health System, Washington DC 20010, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6903684PMC
December 2019

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

J Inherit Metab Dis 2019 Nov 27;42(6):1162-1175. Epub 2019 Feb 27.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12066DOI Listing
November 2019

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Mol Genet Metab 2019 04 25;126(4):397-405. Epub 2019 Feb 25.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.003DOI Listing
April 2019

A phase 1 dose-finding study of intravenous L-citrulline in sickle cell disease: a potential novel therapy for sickle cell pain crisis.

Br J Haematol 2019 02 7;184(4):634-636. Epub 2018 Feb 7.

Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.

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http://dx.doi.org/10.1111/bjh.15124DOI Listing
February 2019

Patterns of Dietary Supplement Use in Children with Down Syndrome.

J Pediatr 2018 10 28;201:100-105.e30. Epub 2018 Jun 28.

Children's National Rare Disease Institute, Children's National Health System, Washington, DC.

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http://dx.doi.org/10.1016/j.jpeds.2018.05.022DOI Listing
October 2018

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.

Mol Genet Metab Rep 2018 Jun 5;15:106-109. Epub 2018 Apr 5.

Children's National Rare Disease Institute and Children's Research Institute, Washington DC, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047110PMC
June 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.

Pediatr Clin North Am 2018 04 2;65(2):231-246. Epub 2018 Feb 2.

Rare Disease Institute, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.pcl.2017.11.004DOI Listing
April 2018

Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism.

Mol Genet Metab Rep 2017 Dec 4;13:52-54. Epub 2017 Sep 4.

Children's National Health System, Division of Genetics & Metabolism, Washington, DC, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269173002
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http://dx.doi.org/10.1016/j.ymgmr.2017.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586549PMC
December 2017

Tetrahydrobiopterin oral therapy recouples eNOS and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs.

Am J Physiol Lung Cell Mol Physiol 2016 Oct 19;311(4):L743-L753. Epub 2016 Aug 19.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee; Department of Pediatrics, the University of Utah School of Medicine, Salt Lake City, Utah; and

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http://dx.doi.org/10.1152/ajplung.00238.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142125PMC
October 2016

Climbing the Ladder: Experience with Developing a Large Group Genetic Counselor Career Ladder at Children's National Health System.

J Genet Couns 2016 08 23;25(4):644-8. Epub 2016 May 23.

Children's National Health System, 111 Michigan Avenue NW, Washington, DC, 20010, USA.

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http://dx.doi.org/10.1007/s10897-016-9967-4DOI Listing
August 2016

Targeted Echocardiographic Screening for Latent Rheumatic Heart Disease in Northern Uganda: Evaluating Familial Risk Following Identification of an Index Case.

PLoS Negl Trop Dis 2016 06 13;10(6):e0004727. Epub 2016 Jun 13.

Division of Cardiology, Children's National Health System, Washington, District of Columbia, United States of America.

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http://dx.doi.org/10.1371/journal.pntd.0004727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4905680PMC
June 2016

Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States.

AIDS Res Hum Retroviruses 2016 Apr 19;32(4):339-48. Epub 2016 Jan 19.

1 Children's National Health System , Division of Genetics & Metabolism, Washington, DC.

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http://dx.doi.org/10.1089/AID.2015.0112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817565PMC
April 2016

Preoperative evaluation and comprehensive risk assessment for children with Down syndrome.

Paediatr Anaesth 2016 Apr 9;26(4):356-62. Epub 2016 Jan 9.

Division of Genetics & Metabolism, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1111/pan.12841DOI Listing
April 2016

Simple and inexpensive quantification of ammonia in whole blood.

Mol Genet Metab 2015 Jun-Jul;115(2-3):95-100. Epub 2015 Apr 30.

Fischell Department of Bioengineering, University of Maryland, College Park, MD 20742, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462127PMC
March 2016

Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States.

Mol Genet Metab 2015 Dec 4;116(4):226-30. Epub 2015 Nov 4.

Children's National Health System and George Washington University, Washington, DC, United States; University of Mississippi Medical Center, Jackson, MS, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153007
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http://dx.doi.org/10.1016/j.ymgme.2015.11.002DOI Listing
December 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.

BMC Med Genet 2015 Sep 14;16:82. Epub 2015 Sep 14.

Division of Pediatric Allergy, Immunology and Pulmonary, Department of Pediatrics, Vanderbilt University School of Medicine, 2200 Children's Way, 11215 Doctor's Office Tower, Nashville, TN, 37232, USA.

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http://dx.doi.org/10.1186/s12881-015-0229-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570703PMC
September 2015

Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs.

Am J Respir Cell Mol Biol 2015 Aug;53(2):255-64

4 Department of Pediatrics, Albert Einstein College of Medicine and the Children's Hospital at Montefiore, New York, New York.

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http://dx.doi.org/10.1165/rcmb.2014-0351OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566047PMC
August 2015

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

JIMD Rep 2015 22;22:29-38. Epub 2015 Feb 22.

Division of Inherited Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://link.springer.com/10.1007/8904_2015_408
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http://dx.doi.org/10.1007/8904_2015_408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486274PMC
July 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

Mind the gap.

Mol Genet Metab 2014 Sep-Oct;113(1-2)

Parent and IEM Activist.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140025
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http://dx.doi.org/10.1016/j.ymgme.2014.08.005DOI Listing
June 2015

Save the biochemical geneticists!

Authors:
Marshall Summar

Mol Genet Metab 2014 Sep-Oct;113(1-2):2-3

Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140029
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http://dx.doi.org/10.1016/j.ymgme.2014.09.006DOI Listing
June 2015

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases.

Mol Genet Metab 2014 Sep-Oct;113(1-2):105-8

University Children's Hospital Heidelberg, Department of General Pediatrics, Division of Inherited Metabolic Diseases, Heidelberg, Germany, and representing the European Registry and Network for Intoxication Type Metabolic Diseases; Japanese Urea Cycle Disorders Consortium; University Children's Hospital Heidelberg, Department of General Pediatrics, Division of Inherited Metabolic Diseases, Heidelberg, Germany; European Registry and Network for Intoxication Type Metabolic Diseases.

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http://dx.doi.org/10.1016/j.ymgme.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868037PMC
June 2015

L-citrulline provides a novel strategy for treating chronic pulmonary hypertension in newborn infants.

Acta Paediatr 2014 Oct 20;103(10):1019-26. Epub 2014 Jun 20.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.

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http://doi.wiley.com/10.1111/apa.12707
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http://dx.doi.org/10.1111/apa.12707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209175PMC
October 2014

Sodium-coupled neutral amino acid transporter 1 (SNAT1) modulates L-citrulline transport and nitric oxide (NO) signaling in piglet pulmonary arterial endothelial cells.

PLoS One 2014 15;9(1):e85730. Epub 2014 Jan 15.

Dept. of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America ; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085730PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893279PMC
September 2014

Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.

Med Image Anal 2014 Jul 15;18(5):699-710. Epub 2014 Apr 15.

Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Medical Center, Washington, DC, United States; School of Medicine and Health Sciences, George Washington University, Washington, DC, United States.

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http://dx.doi.org/10.1016/j.media.2014.04.002DOI Listing
July 2014

Liver transplantation for pediatric metabolic disease.

Mol Genet Metab 2014 Apr 17;111(4):418-27. Epub 2014 Jan 17.

Department of Pediatrics, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA; Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Rangos Research Center, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.01.006DOI Listing
April 2014

Hierarchical constrained local model using ICA and its application to Down syndrome detection.

Med Image Comput Comput Assist Interv 2013 ;16(Pt 2):222-9

Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1007/978-3-642-40763-5_28DOI Listing
April 2014

The incidence of urea cycle disorders.

Mol Genet Metab 2013 Sep-Oct;110(1-2):179-80. Epub 2013 Jul 18.

Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Ave. NW, Washington DC 20008, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364413PMC
March 2014

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

J Pediatr 2013 Dec 29;163(6):1705-1710.e1. Epub 2013 Sep 29.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.08.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958925PMC
December 2013

Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation.

Cardiovasc Res 2012 Aug 6;95(3):375-84. Epub 2012 Jun 6.

Department of Pediatrics, University School of Medicine, Vanderbilt University Medical Center, 2215 B Garland Ave., Nashville, TN 37232-0656, USA.

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http://dx.doi.org/10.1093/cvr/cvs186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400357PMC
August 2012

Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children.

Pulm Med 2012 5;2012:301475. Epub 2012 Jul 5.

Division of Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1155/2012/301475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399475PMC
August 2012

Propionic acidemia: to liver transplant or not to liver transplant?

Pediatr Transplant 2012 May 15;16(3):209-10. Epub 2012 Feb 15.

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http://dx.doi.org/10.1111/j.1399-3046.2012.01649.xDOI Listing
May 2012

Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders.

Mol Genet Metab 2012 May 22;106(1):39-42. Epub 2012 Feb 22.

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

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http://dx.doi.org/10.1016/j.ymgme.2012.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3336020PMC
May 2012

Propionic acidemia consensus conference summary.

Mol Genet Metab 2012 Jan 16;105(1):3-4. Epub 2011 Aug 16.

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

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http://www.oaanews.org/pdf/2011-PA-Summar.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S109671921100260
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http://dx.doi.org/10.1016/j.ymgme.2011.08.007DOI Listing
January 2012

Lack of association between autism and four heavy metal regulatory genes.

Neurotoxicology 2011 Dec 20;32(6):769-75. Epub 2011 Jul 20.

Department of Pediatric Toxicology, Vanderbilt University School of Medicine, Nashville, TN 37232-041, USA.

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http://dx.doi.org/10.1016/j.neuro.2011.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3206176PMC
December 2011

Evaluation of immunization rates and safety among children with inborn errors of metabolism.

Pediatrics 2011 May 11;127(5):e1139-46. Epub 2011 Apr 11.

Kaiser Permanente Vaccine Study Center, 1 Kaiser Plaza, 16th Floor, Oakland, CA 94612, USA.

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http://dx.doi.org/10.1542/peds.2010-3706DOI Listing
May 2011

Vaccines are not associated with metabolic events in children with urea cycle disorders.

Pediatrics 2011 May 11;127(5):e1147-53. Epub 2011 Apr 11.

Department of Pediatrics/Division of Genetics and Genomic Medicine, Vanderbilt University School of Medicine, DD-2205 Medical Center North, Nashville, TN 37232-2578, USA.

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http://pediatrics.aappublications.org/content/pediatrics/ear
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2010-1628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387867PMC
May 2011

Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children.

J Clin Endocrinol Metab 2009 Nov 9;94(11):4463-71. Epub 2009 Oct 9.

Department of Pediatrics, Division of Endocrinology and Molecular Medicine, University of Kentucky College of Medicine, Lexington, Kentucky 40508, USA.

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http://dx.doi.org/10.1210/jc.2009-0949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775646PMC
November 2009

Genetic continuity after the collapse of the Wari empire: mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes.

Am J Phys Anthropol 2009 Sep;140(1):80-91

Department of Anthropology and the School of Biological Sciences, Washington State University, Pullman, WA 99164-4910, USA.

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http://doi.wiley.com/10.1002/ajpa.21037
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http://dx.doi.org/10.1002/ajpa.21037DOI Listing
September 2009

L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets.

Am J Physiol Lung Cell Mol Physiol 2009 Sep 17;297(3):L506-11. Epub 2009 Jul 17.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, Nashville, TN, USA.

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http://dx.doi.org/10.1152/ajplung.00017.2009DOI Listing
September 2009

Comparison of alterations in amino acids content in cultured astrocytes or neurons exposed to methylmercury separately or in co-culture.

Neurochem Int 2009 Jul-Aug;55(1-3):136-42. Epub 2009 Jan 31.

Department of Pediatrics, and the Kennedy Center for Research on Human Development, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S019701860900031
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http://dx.doi.org/10.1016/j.neuint.2009.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680756PMC
July 2009

Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma.

Pediatr Pulmonol 2009 Jul;44(7):649-54

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-9500, USA.

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http://doi.wiley.com/10.1002/ppul.21033
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http://dx.doi.org/10.1002/ppul.21033DOI Listing
July 2009

Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues.

Mol Genet Metab 2009 Jun 3;97(2):121-7. Epub 2009 Mar 3.

Pediatrics and Molecular Physiology & Biophysics, Center for Human Genetics Research, Vanderbilt University Medical Center, 1175J MRB IV, Nashville, TN 37232-0007, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680466PMC
June 2009

Attitudes regarding vaccination among practitioners of clinical biochemical genetics.

Mol Genet Metab 2008 Sep-Oct;95(1-2):1-2

Department of Pediatrics, UCSD, Rady Children's Hospital-San Diego, UCSD School of Medicine, La Jolla, CA 92093-0830, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.08.001DOI Listing
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

Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth muscle.

Am J Respir Cell Mol Biol 2006 Nov 8;35(5):559-64. Epub 2006 Jun 8.

Vanderbilt University School of Medicine, 2200 Children's Way, 11215 Doctor's Office Tower, Nashville, TN 37232-9500, USA.

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http://dx.doi.org/10.1165/rcmb.2005-0282OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643275PMC
November 2006

Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrulline.

J Thorac Cardiovasc Surg 2006 Jul;132(1):58-65

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tenn, USA.

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http://dx.doi.org/10.1016/j.jtcvs.2006.02.012DOI Listing
July 2006

Unmasked adult-onset urea cycle disorders in the critical care setting.

Crit Care Clin 2005 Oct;21(4 Suppl):S1-8

Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232-0165, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.002DOI Listing
October 2005

Considerations in the difficult-to-manage urea cycle disorder patient.

Crit Care Clin 2005 Oct;21(4 Suppl):S19-25

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.001DOI Listing
October 2005

Nutritional management of urea cycle disorders.

Crit Care Clin 2005 Oct;21(4 Suppl):S27-35

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30032, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.08.003DOI Listing
October 2005

Genetic counseling issues in urea cycle disorders.

Crit Care Clin 2005 Oct;21(4 Suppl):S37-44

Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.08.001DOI Listing
October 2005

Urea cycle disorders: clinical presentation outside the newborn period.

Crit Care Clin 2005 Oct;21(4 Suppl):S9-17

Maine Pediatric Specialty Group, Portland, ME 04102, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.007DOI Listing
October 2005

Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study.

AIDS 2005 Sep;19(13):1341-9

Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37203, USA.

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http://dx.doi.org/10.1097/01.aids.0000180786.02930.a1DOI Listing
September 2005

Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation.

Free Radic Biol Med 2005 Mar;38(5):678-83

Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, 519 Light Hall, Nashville, TN 37232-0700, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S089158490400963
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http://dx.doi.org/10.1016/j.freeradbiomed.2004.11.031DOI Listing
March 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

Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics.

Mol Genet Metab 2005 Feb 19;84(2):104-11. Epub 2004 Dec 19.

Computational Genetics Laboratory, Department of Genetics, Norris Cotton Cancer Center, Dartmouth Medical School, Lebanon, NH 03756, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.10.006DOI Listing
February 2005