AreegHassanEl-GharbawyMDDSc.

PubMed

• Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
  Denise Aldrian, Birgit Waldner, Georg F Vogel, Areeg H El-Gharbawy, Patrick McKiernan, Jerard Vockley, Yuval E Landau, Fuad Al Mutairi, Karolina M Stepien, Anne Mei-Kw...> ;Journal of Inherited Metabolic Disease. 2024 Mar 1
• 3 citations
  Rescue of glutaric aciduria type I in mice by liver-directed therapies.
  Mercedes Barzi, Collin G Johnson, Tong Chen, Ramona M Rodriguiz, Madeline Hemmingsen, Trevor J Gonzalez, Alan Rosales, James Beasley, Cheryl K Peck, Yunhan Ma, Ashlee ...> ;Science Translational Medicine. 2023 Apr 19
• 8 citations
  Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
  Rebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, Akihiro Asai, Ariana L Smith, Deeksha S Bali, Peter B Kang, Andrew P Landstrom, H Orhan Akman, T Andrew Burrow,...> ;Molecular Genetics and Metabolism. 2023 Mar 1
• 2 citations
  Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
  Areeg El-Gharbawy, Adviye A Tolun, Carine A Halaby, Stephanie L Austin, Priya S Kishnani, Deeksha S Bali> ;Molecular Genetics and Metabolism Reports. 2022 Jun 1
• 9 citations
  A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
  Ghada Hijazi, Anna K. Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie Austin, Surekha Pendyal, Areeg El-Gharbawy, Kris...> ;Molecular Genetics and Metabolism Reports. 2021 Nov 11
• 31 citations
  Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
  Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan V. Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lace, Justine Rousseau, Norbert F. Ajeawu...> ;American Journal of Human Genetics. 2019 Aug 1
• 63 citations
  Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Priya S. Kishnani, Jennifer L. Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El-Gharbawy, Laurie M. Brown, Stephen G. Kah...> ;Genetics in Medicine. 2019 Jan 19
• 74 citations
  Glycogen metabolism and glycogen storage disorders
  Shibani Kanungo, Kimberly Wells, Taylor Tribett, Areeg El-Gharbawy> ;Annals of Translational Medicine. 2018 Jul 11
• 44 citations
  Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.
  Areeg El-Gharbawy, Jerry Vockley> ;Pediatric Clinics of North America. 2017 Dec 28
• 21 citations
  An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
  Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E.W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porc...> ;Journal of Inherited Metabolic Disease. 2018 Mar 1
• 2 citations
  Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia.
  Xiao Zhu, Kelly N. Evans, Areeg El-Gharbawy, Jonathan Y. Lee, Jack E. Brooker, Noel Jabbour, Elizabeth C. Tyler-Kabara, Suneeta Madan-Khertarpal, Joseph E. Losee, Jess...> ;The Cleft Palate-Craniofacial Journal. 2018 Feb 28
• 75 citations
  Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
  Melanie B. Gillingham, Stephen B. Heitner, Julie Martin, Sarah B. Rose, Amy Goldstein, Areeg El-Gharbawy, Stephanie J. DeWard, Michael R. Lasarev, Jim Pollaro, James P...> ;Journal of Inherited Metabolic Disease. 2017 Nov 1
• 4 citations
  Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.
  Elena Infante, Gorka Alkorta-Aranburu, Areeg El-Gharbawy> ;Clinical Case Reports. 2017 Jun 28
• 49 citations
  Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Co...
  Jiancong Liang, Danielle N. Alfano, James E. Squires, Melissa M. Riley, W. Tony Parks, Julia Kofler, Areeg El-Gharbawy, Suneeta Madan-Kheterpal, Roxanne Acquaro, Jenni...> ;Pediatric and Developmental Pathology. 2017 Mar 15
• 1 citations
  Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.
  Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica> ;Pediatric and Developmental Pathology. 2017 Mar 10
• 41 citations
  De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
  , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2016 Sep 1
• 70 citations
  Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
  Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester W. Brown, Pilar L. Magoulas, Anne Chun Hui Tsai, Areeg El-Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Ch...> ;American Journal of Human Genetics. 2014 Nov 6
• 4 citations
  Menorrhagia in patients with type I glycogen storage disease.
  Stephanie Austin, Areeg El-Gharbawy, Vellore G. Kasturi, Andra H. James, Priya S. Kishnani> ;Obstetrics and Gynecology. 2013 Dec 1
• 33 citations
  Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency
  Areeg El-Gharbawy, Jennifer L. Goldstein, David S. Millington, Amie E. Vaisnins, Andrea Schlune, Bruce A. Barshop, Andreas Schulze, Dwight D. Koeberl, Sarah P. Young> ;Molecular Genetics and Metabolism. 2013 Jun 1
• 27 citations
  An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.
  Areeg El-Gharbawy, Joanne Mackey, Stephanie DeArmey, Greg Westby, Sherry G. Grinnell, Peggy Malovrh, Robert L. Conway, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2011 Sep 1
• 37 citations
  Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.
  Areeg El-Gharbawy, Gifty Bhat, Jaime E. Murillo, Beth L. Thurberg, Christoph Kampmann, Karl-Eugen Mengel, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2011 Aug 1
• 8 citations
  Metabolic Myopathies: Clinical Features and Diagnostic Approach
  Edward C. Smith, Areeg El-Gharbawy, Dwight D. Koeberl> ;Rheumatic Diseases Clinics of North America. 2011 May 1
• 15 citations
  Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.
  Areeg El-Gharbawy, Anne Boney, Sarah P. Young, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2011 Feb 1
• 155 citations
  Glycogen Storage Disease Type III diagnosis and management guidelines
  Priya S. Kishnani, Stephanie Austin, Pamela Arn, Deeksha Bali, Anne Boney, Laura E. Case, Wendy K. Chung, Dev M. Desai, Areeg El-Gharbawy, Ronald G. Haller, G. Peter A...> ;Genetics in Medicine. 2010 Jul 1
• 26 citations
  Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
  Areeg El-Gharbawy, Joseph N. Peeden, Ralph S. Lachman, John M. Graham, Stephen R. Moore, David L. Rimoin> ;American Journal of Medical Genetics. Part A. 2010 Jan 1
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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
• Expanding the clinical spectrum of late onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered  
  El-Gharbawy A.H., Bhat G, Murillo J.E., Thurberg, B.L., Kampmann C, Mengel KE, Kishnani PS, Mol.Genet.Metab, 1/1/2011
• Metabolic myopathies: clinical features and diagnostic approach  
  Smith EC, El-Gharbawy A, Koeberl D., Rheum Dis Clin N Am, 1/1/2011
• Follow up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet  
  El-Gharbawy AH, Boney A, Young SP, PhD, Kishnani PS., Mol Genet Metab, 1/1/2011
• Severe cleidocranial dysplasia and hypophosphatasia in a child with micro deletion of the C-terminal region of RUNX2  
  El-Gharbawy AH, Peeden JN Jr, Lachman RS, Graham JM Jr, Moore SR, Rimoin DL, Am J Med Genet, 1/1/2010
• Hyperphagia, severe obesity, impaired cognitive function and hyperactivity associated with functional loss of one copy of the BDNF gene  
  Gray J, Yeo GSH, Cox JJ, Keogh JM, Morton J, Adlam AR, Yanovski JA, El Gharbawy A, Han JC, Tung YCL, Hodges JR, Raymond FL, O’ Rahilly S, Farooqi IS, Diabetes, 1/1/2006
• Serum Brain Derived Neurotrophic Factor Concentrations in Lean and Overweight Children and Adolescents  
  El-Gharbawy AH, Adler-Wailes DC, Mirch MC, Theim KR, Ranzenhofer L, Tanofsky-Kraff M, Yanovski JA, J Clin Endocrinol Metab, 1/1/2006
• Gender-specific correlates of leptin with hypertension-related phenotypes in African Americans  
  El-Gharbawy AH, Kotchen JM, Grim CE, Kaldunski M, Hoffmann RG, Pausova Z, Hamet P, Kotchen TA, American Journal of Hypertension, 1/1/2002
• Arterial Pressure, Left Ventricular Mass and Aldosterone in Essential Hypertension  
  El-Gharbawy, AH, Nadig VS, Kotchen JM, Grim CE, Sagar KB, Kaldunski ML, Hamet P, Pausova Z, Gaudet D, Gossard F, Kotchen TA, Hypertension, 1/1/2001
• The Value Of Renal Biopsy In Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus  
  Joyce E, Ho J, El-Gharbawy A, Salgado CM, Ranganathan S, Reyes-Múgica M, Pediatr Dev Pathol, 1/18/2015
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Books/Book Chapters

• Oxford Monographs medical genetics 
  Chapter: Glycolysis: Inborn errors of metabolism: from neonatal screening to metabolic pathways 
  El-Gharbawy A, Koeberl D.Editors: Brendan Lee and Fernando Scaglia.2015
• Inborn errors of Metabolism in critically ill Newborns 
  Chapter: A practical approach to the management of a newborn with ambiguous genitalia 
  Jalan, A.Editors: El-Gharbawy A.2012
• Kasr El-Aini Textbook of Medicine (Department of Medicine Cairo University Textbook) 
  Chapter: Medical Genetics 
  Edition 1st,2006
• Cardioskeletal Myopathies in Children and Young Adults 
  Chapter: Non- mitochondrial metabolic diseases 
  Areeg El-Gharbawy, Jerry VockleyEditors: John Jefferies Burns Blaxall Jeffrey Towbin Jeffrey Robbins.Academic PressEdition 1st,2016
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Abstracts/Posters

• 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
• Pyridoxyl 5 phosphate deficiency in a patient with mitochondrial depletion syndrome and Leigh disease due to SUCLG1 mutations: a treatable co-morbidity.
  Chagnon S, ElGharbawy A, Hartman J, Zuccoli G, Hyland K, Goldstein A, Society of inherited medical disease, Asilomar Mol Gen Metab, 1/1/2014
• Why 5- methyltetrahydrofolate may be preferred to folinic acid in severe MTHFR deficiency complicated by cerebral folate deficiency. Results of an “n-1- clinical trial”
  El-Gharbawy AH, Edward S, Bottiglieri T, Hyland K, Koeberl D, Mol Genet Metab, 1/1/2011
• Metabolic Predictors of Coagulation Abnormalities in Glycogen Storage Disease Type 1
  El-Gharbawy AH, Thornburg CD, Austin S, Kishnani PS, Mol Genet Metab, 1/1/2011
• Elevation of guanidinoacetate in the newborn blood spot of a patient with guanidinoacetate methyltransferase deficiency
  Young SP, El-Gharbawy AH, Goldstein J, Vaisnins-Carroll AE, Koeberl DD, Millington DS, Mol Genet Metab, 1/1/2011
• Insulin Resistance Attenuates the Hypertension Associated Elevation of ANF in African Americans
  Kotchen TA, A H. El-Gharbawy, Grim CE, Kotchen J,Tremblay J, Hamet P, Kaldunski ML, 55th Fall High Blood Pressure Council Meeting proceedings, 1/1/2001
• Correlates of Insulin Resistance in Hypertensive African Americans
  El-Gharbawy AE, Kotchen JM, Grim CE, Cowley AW, Bell KR, Hamet P, D. Gaudet D, Kotchen TA, Annual meeting of the Central Society for Clinical Research. J Invest Med, 1/1/2000
• Biotinidase elevation in hepatic glycogen storage disease: A predictive biomarker of disease outcome?
  Tolun AA, El-Gharbawy A, Boyette K, Austin SL, Goldstein, JL, Kishnani, PS, Bali, D, SSIEM meeting, Istanbul, Turkey, 1/31/2010
• Severe neonatal lactic acidosis in a male infant with a PDH E1 alpha frame shift mutation in the C-terminal region: Could we predict the outcome?
  El-Gharbawy A, Boney A, Kishnani P., Society of Inherited Metabolic Disease SIMD, 1/28/2010
• Serum Brain Derived Neurotrophic Factor (BDNF) Concentrations in Lean and Overweight Children
  El-Gharbawy A, Adler-Wailes D, Tanofsky-Kraff M, Theim KR, Mirch MC, Taylor ED, Yanovski JA, NAASO, The Obesity Society 2005 Annual Meeting, 1/15/2005
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Lectures

• Metabolic Control Monitoring in Different Types of GSD 
  1/1/2015
• Mitochondrial Fatty acid oxidation disorders 
  1/1/2014
• Overview of medical aspects of GSD I and III type 6 and 9. The role of ketones in hypoglycemia 
  Raleigh, NC - 1/1/2013
• Update on Glycogen Storage disorders 
  1/1/2013
• Glycogen storage diseases 
  1/1/2013
• Treasure your exceptions, inspirational stories in Genetics and Metabolism 
  Children hospital of Pittsburgh of UPMC - 1/1/2013
• Expanding the clinical spectrum of late onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered 
  Charlotte, NC - 1/1/2012
• Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism Stakeholder Workshop 
  National Institutes of Health, Bethesda Maryland - 1/1/2011
• Bleeding Diathesis and renal Issues in GSD1 
  1/1/2011
• Genetics and Metabolism 
  Children’s Hospital of Colorado, Denver - 1/1/2011
• Towards newborn screening for guanidinoacetate methyl transferase deficiency 
  Duke University Medical Center - 1/1/2011
• Hypoglycemia: a practical approach to diagnosis and management of metabolic, genetic, and endocrine causes 
  Cairo, Egypt - 1/1/2011
• Presentation and Evaluation of Metabolic Myopathies 
  1/1/2011
• Role of newborn screening 
  Cairo, Egypt - 1/1/2009
• Role of Carnitine supplementation in Hyperthyroid States 
  1/1/2007
• The growing role of Pharmacogenomics in Medicine 
  1/1/2007
• What Mendel did not tell us about inheritance? 
  Luxor, Egypt - 1/1/2007
• Genetics and the immune system 
  1/1/2006
• The role of newborn screening in early diagnosis and intervention of genetic disorders not associated with mental retardation 
  Sharm El-Sheikh, Sinai, Egypt - 1/1/2005
• DNA Ambassador to promote interest in genetics and science among High school students 
  1/1/2005
• A Celebration of the Human Genome 
  Manhattan High school, Kansas - 1/1/2005
• How to approach a Case of Pediatric Obesity? 
  Bethesda, MD - 1/1/2005
• The Clinical Spectrum of Klinefelter syndrome 
  Bethesda, MD - 1/1/2004
• Pompe disease expanding the vascular phenotype 
  University of Alabama Birmingham (UAB) - 1/13/2015
• Acute metabolic decompensation in adult patients 
  Washington DC - 1/21/2015
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Other

• 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