Publications by authors named "Georgianne L Arnold"

32Publications

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.

Orphanet J Rare Dis 2020 Sep 25;15(1):266. Epub 2020 Sep 25.

Medical Genetics Clinical Research, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1186/s13023-020-01541-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519570PMC
September 2020

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Cancer Genet 2020 Jun 3;244:36-39. Epub 2020 May 3.

Department of Neurological Surgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2020.04.075DOI Listing
June 2020

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

Mol Genet Metab 2019 Sep - Oct;128(1-2):1-9. 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
April 2020

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

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

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

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

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

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