Areeg El-Gharbawy

Areeg El-Gharbawy

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Areeg El-Gharbawy

Areeg El-Gharbawy

Publications by authors named "Areeg El-Gharbawy"

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24Publications

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Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

Pediatr Dev Pathol 2017 Jan-Feb;20(1):72-75

3 Division of Pediatric Pathology, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1177/1093526616683873DOI Listing
April 2019

Glycogen metabolism and glycogen storage disorders.

Ann Transl Med 2018 Dec;6(24):474

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

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http://dx.doi.org/10.21037/atm.2018.10.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331362PMC
December 2018

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

Pediatr Clin North Am 2018 04 28;65(2):317-335. Epub 2017 Dec 28.

Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6566095PMC
April 2018

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

Clin Case Rep 2017 08 28;5(8):1277-1283. Epub 2017 Jun 28.

Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.

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http://doi.wiley.com/10.1002/ccr3.1010
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http://dx.doi.org/10.1002/ccr3.1010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538066PMC
August 2017

Menorrhagia in patients with type I glycogen storage disease.

Obstet Gynecol 2013 Dec;122(6):1246-54

Departments of Pediatrics, Divisions of Medical Genetics, Duke University Medical Center, Durham, North Carolina, and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; and the Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, Virginia.

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http://pdfs.journals.lww.com/greenjournal/2013/12000/Menorrh
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/01.AOG.0000435451.86108.82DOI Listing
December 2013

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

Mol Genet Metab 2013 Jun 16;109(2):215-7. Epub 2013 Mar 16.

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.03.003DOI Listing
June 2013

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

Mol Genet Metab 2011 Aug 5;103(4):362-6. Epub 2011 May 5.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.009DOI Listing
August 2011

Metabolic myopathies: clinical features and diagnostic approach.

Rheum Dis Clin North Am 2011 May;37(2):201-17, vi

Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, DUMC Box 3936, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.rdc.2011.01.004DOI Listing
May 2011

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

Mol Genet Metab 2011 Feb 9;102(2):214-5. Epub 2010 Nov 9.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 595 La Salle Street, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.11.001DOI Listing
February 2011

Serum brain-derived neurotrophic factor concentrations in lean and overweight children and adolescents.

J Clin Endocrinol Metab 2006 Sep 20;91(9):3548-52. Epub 2006 Jun 20.

Unit on Growth and Obesity, National Institutes of Health, 10 Center Drive, Hatfield Clinical Research Center, Room 1-3330, MSC 1103, Bethesda, Maryland 20892-1103, USA.

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http://dx.doi.org/10.1210/jc.2006-0658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1863006PMC
September 2006

Hyperinsulinism/Hyperammonemia Syndrome: a synopsis.

Mol Genet Metab 2005 Feb;84(2):101-3

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.12.013DOI Listing
February 2005

Gender-specific correlates of leptin with hypertension-related phenotypes in African Americans.

Am J Hypertens 2002 Nov;15(11):989-93

Department of Medicine, Medical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI 53226, USA.

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http://dx.doi.org/10.1016/s0895-7061(02)03089-3DOI Listing
November 2002