Areeg El-Gharbawy, MD, Medical Genetics, Durham, NC


Medical Genetics Durham, NC

Clinical Biochemical Genetics, Clinical Genetics

Associate Professor Pediatrics-Medical Genetics, Clinical Researcher, Clinical and Biochemical Geneticist, Duke University Medical Center

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Education & Training

  • Duke University Hospital
    Duke University HospitalRESIDENCY
  • National Institutes of Health Clinical Center
    National Institutes of Health Clinical CenterRESIDENCY
  • Medical College of Wisconsin Affiliated Hospitals
    Medical College of Wisconsin Affiliated HospitalsRESIDENCY
  • Medical College of Wisconsin Affiliated Hospitals
    Medical College of Wisconsin Affiliated HospitalsFELLOWSHIP
  • Cairo University School of Medicine
    Cairo University School of MedicineMEDICAL_SCHOOL

Certifications & Licensure

  • NC State Medical License
    NC State Medical License 2019 - 2021
  • PA State Medical License
    PA State Medical License 2012 - 2020
  • CA State Medical License
    CA State Medical License 2007 - Present
  • WI State Medical License
    WI State Medical License 1999 - 2017
  • American Board of Internal Medicine Internal Medicine
  • American Board of Medical Genetics and Genomics Clinical Genetics

Awards, Honors, & Recognition

  • Emmanuel Shapira Award for the best article in Molecular Genetics and Metabolism 2012
  • Appreciation award for contribution to the Internal Medicine Department of Medicine academic activities and text book Faculty of Medicine Cairo University, 2010
  • Recognition award American Medical Association, 2003
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Clinical Trials

Publications & Presentations


Journal Articles

  • De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive  
    Tokita, Mari J, Braxton A.A., Shao Y, Lewis A.M, Vincent M, Ku¨ry S, Besnard T, Isidor B, Latypova X, Bezieau S, Liu P, Motter C. S, Melver C. W, Robin N. H., Elena M...., The American Journal of Human Genetics, 1/1/2016
  • Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q313 Microdeletion Syndrome  
    Lalani S.R, Zhang J, Schaaf C.P, Brown CW, Magoulas P, Tsai AC, ElGharbawy A, Wierenga KJ, Bartholomew D, Fong C, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, ..., AJHG, 1/1/2014
  • Elevation of Guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT Deficiency  
    El-Gharbawy A.H, Goldstein J.L, Millington D.S, Vaisnins A.E, Schlune A, Barshop B.A,Schulze A, Koeberl D.D, Young S.P., Mol Genet Metab, 1/1/2013
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Books/Book Chapters

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  • Update of combined D, L-2-hydroxyglutaric aciduria: new case and restoration of the defect in vitro
    A Pop, E A Struys, B Nota, E E W Jansen, W A Kanhai, M R Fernandez Ojeda, S J M Van Dooren, J E Abdenur, I Baric,AMDas, A H El-Gharbawy, MLines, L Smith, N Weinhold,MS..., SSIEM annual symposium, J Inherit Metab Dis, 1/1/2016
  • LARS Mutations in Non- Irish Travelers: an Under-Recognized Multi-System Disorder Characterized by Infantile Hepatopathy During Physiological Stress
    El-Gharbawy A, Sebastian J, Ghaloul-Gonzales L, Mroczkowski H, Goldstein A, Venkat V, Dobrowolski S, Squires R, Vockley J., Mol Gen Metab, 1/1/2015
  • Optimizing metabolic control of glycogen storage disease type 3 (GSD3): potential role for Medium Chain triglycerides (MCT)
    El-Gharbawy A, Arnold G, Perrott-Taylor N, Hughley T, Long K, Vockley J, Kishnani P., Society of inherited medical disease Asilomar, Mol Gen Metab, 1/1/2014
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  • Metabolic Control Monitoring in Different Types of GSD 
  • Mitochondrial Fatty acid oxidation disorders 
  • Overview of medical aspects of GSD I and III type 6 and 9. The role of ketones in hypoglycemia 
    Raleigh, NC - 1/1/2013
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  • New Aspects for Atherothrombotic Risk in Diabetes Mellitus, Thesis 
    Areeg Hassan El-Gharbawy, Medicine Cairo University, Cairo, Egypt
    Cairo, Egypt - 1/1/1998
  • Genetics and Cardiac Disease a monograph 
    Areeg Hassan El-Gharbawy, Cairo University
    Cairo, Egypt