Mark L Batshaw

Mark L Batshaw

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Mark L Batshaw

Mark L Batshaw

Publications by authors named "Mark L Batshaw"

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AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.

Mol Genet Metab 2017 04 2;120(4):299-305. Epub 2017 Mar 2.

Gene Therapy Program, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 125 S. 31st Street, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423267PMC
April 2017

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

J Inherit Metab Dis 2016 07 23;39(4):573-84. Epub 2016 May 23.

Departments of Pediatrics and Neurology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1007/s10545-016-9942-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921309PMC
July 2016

A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice.

Nat Biotechnol 2016 Mar 1;34(3):334-8. Epub 2016 Feb 1.

Gene Therapy Program, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/nbt.3469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4786489PMC
March 2016

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

International telemedicine consultations for neurodevelopmental disabilities.

Telemed J E Health 2014 Jun 24;20(6):559-62. Epub 2014 Mar 24.

1 Center for Neuroscience and Behavioral Health, Children's National Medical Center , Washington, D.C.

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https://www.liebertpub.com/doi/10.1089/tmj.2013.0275
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http://dx.doi.org/10.1089/tmj.2013.0275DOI Listing
June 2014

Research into rare diseases of childhood.

JAMA 2014 May;311(17):1729-30

Pediatric Epidemiology Center, University of South Florida, Tampa.

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http://dx.doi.org/10.1001/jama.2013.285873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441966PMC
May 2014

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.

Mol Genet Metab 2012 Feb 7;105(2):263-5. Epub 2011 Nov 7.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.10.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3273986PMC
February 2012

Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.

Mol Genet Metab 2012 Feb 7;105(2):203-11. Epub 2011 Nov 7.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270700PMC
February 2012

Genomics, intellectual disability, and autism.

N Engl J Med 2012 Feb;366(8):733-43

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1056/NEJMra1114194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107681PMC
February 2012

Adeno-associated virus antibody profiles in newborns, children, and adolescents.

Clin Vaccine Immunol 2011 Sep 20;18(9):1586-8. Epub 2011 Jul 20.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1128/CVI.05107-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3165215PMC
September 2011

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches.

J Dev Behav Pediatr 2010 Sep;31(7):582-91

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

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http://dx.doi.org/10.1097/DBP.0b013e3181ee384eDOI Listing
September 2010

Alternative pathway or diversion therapy for urea cycle disorders now and in the future.

Mol Genet Metab 2010 Jul 22;100(3):219-20. Epub 2010 Apr 22.

Department of Psychiatry, Pediatrics and Human Genetics, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.04.008DOI Listing
July 2010

Systematic evaluation of AAV vectors for liver directed gene transfer in murine models.

Mol Ther 2010 Jan 27;18(1):118-25. Epub 2009 Oct 27.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/mt.2009.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839210PMC
January 2010

The pleiotropic effects of natural AAV infections on liver-directed gene transfer in macaques.

Mol Ther 2010 Jan 3;18(1):126-34. Epub 2009 Nov 3.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/mt.2009.245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839221PMC
January 2010

Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.

Pediatr Res 2009 Jul;66(1):96-101

Department of Psychiatry and Behavioral Sciences, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3181a27a16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2746951PMC
July 2009

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

Analysis of tumors arising in male B6C3F1 mice with and without AAV vector delivery to liver.

Mol Ther 2006 Jul 6;14(1):34-44. Epub 2006 May 6.

Gene Therapy Program, Division of Medical Genetics, Department of Medicine, Hospital of the University of Pennsylvania, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymthe.2006.03.008DOI Listing
July 2006

Is there life as an investigator after becoming a pediatric department chair?

J Pediatr 2006 Apr;148(4):425-6

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

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http://dx.doi.org/10.1016/j.jpeds.2006.01.032DOI Listing
April 2006

Measuring return on investment of an intensive faculty development program in medical education.

J Pediatr 2005 Aug;147(2):133-4

Children's National Medical Center and the Department of Pediatrics, George Washington University School of Medicine, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.jpeds.2005.07.001DOI Listing
August 2005

Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer.

Mol Genet Metab 2003 Sep-Oct;80(1-2):148-58

Department of Surgery, University of Pennsylvania School of Medicine, BRB II/III Rm, 607 421 Curie Blvd, Philadelphia, PA 19104, USA.

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November 2004

Ethical dilemmas in the treatment of children with disabilities.

Pediatr Ann 2004 Nov;33(11):752-61

George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.3928/0090-4481-20041101-10DOI Listing
November 2004

Cognitive outcome in urea cycle disorders.

Mol Genet Metab 2004 Apr;81 Suppl 1:S58-62

Children's Research Institute, Children's National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010-2916, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.11.016DOI Listing
April 2004

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.

Ann Neurol 2004 Jan;55(1):80-6

North Shore-Long Island Jewish Health System, Schneider Children's Hospital, Division of Child and Adolescent Psychiatry, New Hyde Park, NY, USA.

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http://doi.wiley.com/10.1002/ana.10794
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http://dx.doi.org/10.1002/ana.10794DOI Listing
January 2004

Brain development and the ontogeny of developmental disabilities.

Adv Pediatr 2002 ;49:1-57

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

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January 2003

Humoral immune response to recombinant adenovirus and adeno-associated virus after in utero administration of viral vectors in mice.

Pediatr Res 2002 Jul;52(1):95-104

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

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http://www.nature.com/doifinder/10.1203/00006450-200207000-0
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http://dx.doi.org/10.1203/00006450-200207000-00018DOI Listing
July 2002