Georgianne L Arnold

Georgianne L Arnold

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Georgianne L Arnold

Georgianne L Arnold

Publications by authors named "Georgianne L Arnold"

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Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

Mol Genet Metab 2019 Jul 19. Epub 2019 Jul 19.

Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT 06030, United States of America; GSD Program, Connecticut Children's Medical Center, Hartford, CT 06106, United States of America.

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http://dx.doi.org/10.1016/j.ymgme.2019.07.011DOI Listing
July 2019

Inborn errors of metabolism in the 21 century: past to present.

Ann Transl Med 2018 Dec;6(24):467

Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

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http://dx.doi.org/10.21037/atm.2018.11.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331363PMC
December 2018

Amino acid disorders.

Ann Transl Med 2018 Dec;6(24):471

Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.21037/atm.2018.12.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331359PMC
December 2018

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Mol Genet Metab 2016 May 15;118(1):15-20. Epub 2016 Feb 15.

University of Pittsburgh School of Medicine, Department of Pediatrics, Pittsburgh, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540133PMC
May 2016

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

Plast Reconstr Surg Glob Open 2015 Jun 8;3(6):e427. Epub 2015 Jul 8.

UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, Pa.; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pa.; and Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa.

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http://dx.doi.org/10.1097/GOX.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494497PMC
June 2015

Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.

Mol Genet Metab 2015 Apr 16;114(4):557-63. Epub 2015 Feb 16.

BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.02.003DOI Listing
April 2015

Introduction: Neurodevelopmental issues in inborn errors of metabolism.

Dev Disabil Res Rev 2013 ;17(3):185-6

Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ddrr.1121DOI Listing
March 2014

Development of clinical guidelines for inborn errors of metabolism: commentary.

Mol Genet Metab 2013 Apr 30;108(4):203-5. Epub 2013 Jan 30.

Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.013DOI Listing
April 2013

Internet use by parents of infants with positive newborn screens.

J Inherit Metab Dis 2012 Sep 2;35(5):879-84. Epub 2012 Feb 2.

University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1007/s10545-011-9449-7DOI Listing
September 2012

Thoroughly modern medicine.

Mol Genet Metab 2011 Sep-Oct;104(1-2):1-2. Epub 2011 Jul 20.

University of Pittsburgh Graduate School of Public Health, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15238, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.07.011DOI Listing
January 2012

Parents' experiences of expanded newborn screening evaluations.

Pediatrics 2011 Jul 27;128(1):53-61. Epub 2011 Jun 27.

University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1542/peds.2010-3413DOI Listing
July 2011

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Mol Genet Metab 2010 Mar 1;99(3):263-8. Epub 2009 Nov 1.

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.10.188DOI Listing
March 2010

Universal nephroblastomatosis with bilateral hyperplastic nephromegaly in siblings.

Pediatr Dev Pathol 2009 Jan-Feb;12(1):47-52. Epub 2008 Feb 14.

Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.

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http://dx.doi.org/10.2350/07-11-0380.1DOI Listing
May 2009

Late onset optic neuropathy in methylmalonic and propionic acidemia.

Am J Ophthalmol 2009 May 25;147(5):929-33. Epub 2009 Feb 25.

Department of Ophthalmology, University of Rochester, Rochester, New York, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000293940800964
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http://dx.doi.org/10.1016/j.ajo.2008.12.024DOI Listing
May 2009

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Mol Genet Metab 2008 Apr 21;93(4):363-70. Epub 2007 Dec 21.

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.11.002DOI Listing
April 2008

Plasma amino acids profiles in children with autism: potential risk of nutritional deficiencies.

J Autism Dev Disord 2003 Aug;33(4):449-54

Department of Pediatrics, University of Rochester Medical Center, Rochester, New York 14642, USA.

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http://dx.doi.org/10.1023/a:1025071014191DOI Listing
August 2003

Protein insufficiency and linear growth restriction in phenylketonuria.

J Pediatr 2002 Aug;141(2):243-6

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA.

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http://dx.doi.org/10.1067/mpd.2002.126455DOI Listing
August 2002