AndreaLGropmanMD

PubMed

• 96 citations
  Natural history of propionic acidemia.
  Loren D.M. Pena, Jill Franks, Kimberly A. Chapman, Andrea L. Gropman, Nicholas Ah Mew
  Molecular Genetics and Metabolism. 2012-01-01
• 194 citations
  Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
  Kathryn R. Wagner, Sherifa A. Hamed, Donald W. Hadley, Andrea L. Gropman, Aaron H. Burstein
  Annals of Neurology. 2001-06-01
• 18 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
  Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer
  Brain. 2020-08-01

Journal Articles

• A Newborn with Hyperlactatemia and Epileptic Encephalopathy  
  Rawad Obeid, Andrea Gropman, ScienceDirect
• The m.11778 A > G Variant Associated with the Coexistence of Leber's Hereditary Optic Neuropathy and Multiple Sclerosis-like Illness Dysregulates the Metabolic Interpl...  
  Andrea Gropman, MD, ScienceDirect
• MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia  
  Baker EH, Sloan JL, Hauser NS, Gropman AL, Adams DR, Toro C, Manoli I, Venditti CP, AJNR Am; J Neuroradiol, 9/4/2014
• Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation  
  Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL, J Child Neurol, 9/1/2014
• Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1  
  Lee R, Apkarian K, Jung ES, Yanjanin N, Yoshida S, Mori S, Park J, Gropman A, Baker EH, Porter FD, Pediatr Neurol, 7/28/2014
• Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome  
  Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD, J Inherit Metab Dis, 5/1/2014
• Expanding the phenotypic profile of boys with 47, XXY: the impact of familial learning disabilities  
  Samango-Sprouse CA, Stapleton EJ, Mitchell FL, Sadeghin T, Donahue TP, Gropman AL, Am J Med Genet A, 1/1/2014
• Variations in EEG Discharges Predict ADHD Symptoms Within Individual Smith-Lemli-Opitz Patients  
  Schreiber JM, Lanham DC, Trescher WA, Sparks SE, Wassif CA, Caffo BS, Porter FD, Tierney E, Gropman AL, Ewen JB, Neurology, 1/1/2014
• Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations  
  Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodam..., Am J Med Genet A, 1/1/2014
• Treatment of mitochondrial disorders  
  Avula S, Parikh S, Demarest S, Kurz J, Gropman A, Curr Treat Options Neurol, 1/1/2014
• Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013  
  Pacheco-Colon I, Fricke S, VanMeter J, Gropman A, Mol Genet Metab, 1/1/2014
• Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency  
  Sprouse C, King J, Helman G, Pacheco-Colon I, Shattuck K, Breeden A, Seltzer R, VanMeter JW, Gropman AL, Mol Genet Metab, 1/1/2014
• Evidence-Based Decision Support for Neurological Diagnosis Reduces Errors and Unnecessary Workup  
  Segal MM, Williams MS, Gropman AL, Torres AR, Forsyth R, Connolly AM, El-Hattab AW, Perlman SJ, Samanta D, Parikh S, Pavlakis SG, Feldman LK, Betensky RA, Gospe SM Jr, J Child Neurol, 4/10/2013
• Practice patterns of mitochondrial disease physicians in North America Part 2: treatment, care and management  
  Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; Mitochondrial Medicine Society Clinical Directors Working Group; Clinical Director's Work Group, Mitochondrion, 1/1/2013
• Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47, XXY syndrome at 36 and 72 months of age  
  Samango-Sprouse CA, Sadeghin T, Mitchell FL, Dixon T, Stapleton E, Kingery M, Gropman AL, Am J Med Genet A, 1/1/2013
• Introduction: Past, present, and future care of individuals with XXY  
  Samango-Sprouse CA, Gropman AL, Am J Med Genet C Semin Med Genet, 1/1/2013
• Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?  
  Samango-Sprouse CA, Stapleton E, Sadeghin T, Gropman AL, J Med Genet C Semin Med Genet, 1/1/2013
• Neurodevelopmental disorders and genetic testing: Current approaches and future advances  
  Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S, Ann Neurol, 1/1/2013
• Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome  
  Lee RW, Conley SK, Gropman A, Porter FD, Baker EH, Am J Med Genet A, 1/1/2013
• The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria  
  Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG, Am J Hum Genet, 1/1/2012
• Patterns of brain injury in inborn errors of metabolism  
  Gropman AL, Semin Pediatr Neurol, 1/1/2012
• Urea cycle defects and hyperammonemia: effects on functional imaging  
  Gropman AL, Prust M, Breeden A, Fricke S, Vanmeter J, Metab Brain Dis, 1/1/2012
• High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly  
  Solomon BD, Pineda-Alvarez DE, Gropman AL, Willis MJ, Hadley DW, Muenke M, Mol Syndromol, 1/1/2012
• Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis  
  Agochukwu NB, Solomon BD, Gropman AL, Muenke M, Pediatr Neurol, 1/1/2012
• Neurocognitive phenotype of isolated methylmalonic acidemia  
  O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J, Pediatrics, 1/1/2012
• Join now to see all

Books/Book Chapters

• Inherited Metabolic Epilepsies 
  Chapter: "Advances in MR Spectroscopy for Inherited Epilepsies" 
  Breeden A, Prust MJ, Gropman ALEditors: Phillip Pearl.Demos Medical Publishing2013
• Inherited Metabolic Epilepsies 
  Chapter: "Mitochondrial Diseases and Epilepsy" 
  Parikh S, Wolfe LA, Gropman AEditors: Phillip Pearl.Demos Medical Publishing2013
• Clinical Decision Support: Pediatrics 
  Chapter: Mitochondrial disorders. 
  Turnacioglu S, Gropman AEditors: Julia Macmillan.Elsevier2012
• Sleep in Childhood Neurological Disorders 
  Chapter: "Smith Magenis syndrome" 
  Szuhay GP and Gropman ALEditors: Sanjeev V. Kothare MD and Suresh Kotagal MD.Demos Medical Publishing2011
• Cognitive and Behavioral Abnormalities of Pediatric Diseases 
  Chapter: "Neurologic aspects of the Smith Magenis Syndrome" 
  Gropman AL, Smith ACM, Duncan WEditors: Yitzchak Frank and Ruth Nass.Oxford University Press2010
• Management of Genetic Syndromes 
  Chapter: "Holoprosencephaly" 
  Page 291 - 308Gropman A and Muenke MEditors: Cassidy S.B. and Allanson J.Wiley-Liss, Inc., New YorkEdition 2nd,2005
• Bioimaging in Neurodegeneration 
  Chapter: "Childhood mitochondrial disorders and other inborn errors of metabolism presenting with white matter disease" 
  Gropman AL and Vanderver AEditors: Broderick P.A., Rahni D.N., and Kolodny E.H..Humana Press, Inc., New York2005
• Management of Genetic Syndromes 
  Chapter: "Smith-Magenis syndrome" 
  Smith ACM and Gropman AEditors: Cassidy S.B. and Allanson J.Wiley-Liss, Inc., New York2001
• Join now to see all

Abstracts/Posters

• Treatment Reverses 7 Years of Cognitive Impairment Secondary to Late-Onset cobalamin C (cblC) Disorder.
  Robert K. Hindman, Paul Kruszka, Jennifer L. Sloan, Irini Manoli, Andrea Gropman, Kristina Cusmano-Ozog, Charles P. Venditti, Joseph Snow, American Academy of Clinical Neuropsychology, Chicago, 6/19/2013
• Understanding Biochemical Alterations in Urea Cycle Disorders.
  Ellenbogen A, Ludwig W, Gropman A, Annals of Neurology, 1/1/2012
• Fiber tracts in the corpus callosum correlate with scores on behavioral tasks, glutamine and myoinositol levels in patients with ornithine transcarbamylase deficiency.
  Ludwig W, Ellenbogan A, Gropman A, Molecular Genetics and Metabolism, 1/1/2012
• Headaches in Ornithine Transcarbamylase Deficiency (OTCD) Heterozygotes.
  Russcol E, Gropman AL, Pediatric Academic Societies' & American Society for Pediatric Research Joint Meeting, Denver, CO, 4/30/2011
• Further characterization of congenital disorder of glycosylation IIB in siblings.
  Wolfe LA, Golas GA, He M, Xia B, Zhang W, Song X, Gropman A, Tifft C J, Molecular Genetics and Metabolism, 1/1/2011
• Two siblings diagnosed with adenylosuccinate lyase deficiency in late adolescence.
  Golas G, Wolfe L, Bishop L, Zein W, Gropman A, Markello T, Adams D, Molecular Genetics and Metabolism, 1/1/2011
• Altered neural activation in ornithine transcarbamylase deficiency during working memory: An fMRI study.
  Shattuck K, Prust M, VanMeter J, Seltzer RR, Hailu A, Rigas A, Hussain R, Gropman AL, Ann Neurology, 1/1/2011
• A detailed phenotype and long term outcome of early onset CblC disease.
  N. Carrillo-Carrasco, J. Sloan, I. Manoli, N. Hauser, W.M. Zein, , A. Gropman, P. Tanpaiboon, J. Graf, E. Baker, J. Snow, S.M. Paul, B. Brooks, C.P Venditti, SIMD, 1/1/2010
• L-Dopa Therapy in Angelman Syndrome of Childhood.
  Lavenstein B, Gropman A, Neurology, 1/1/2010
• Unexplained Neonatal Encephalopathy: Potential Role of Methylenetetrahydrofolate Reductase Polymorphisms.
  Gertz BE, Kahn IL, Shattuck, VanMeter JW, Gropman AL, Annals of Neurology, 1/1/2009
• Comparative Genomic Hybridization (CGH) in the Diagnosis of Malformations of Cerebral Development.
  Roberts F, Vanderver A, Gropman A, Neurology, 1/1/2009
• 13C MRS study of ornithine transcarbamylase deficiency (OTCD).
  Andrea L. Gropman, Napapon Sailasuta, Larry Robertson, Kent Harris, Peter S. Allen and Brian D. Ross, American Academy of Neurology, Chicago, 4/1/2008
• Isolated renal transplantation in an adult with cobalamin-responsive methylmalonic acidemia.
  A. Gropman, K. O'Brien, J. Sloan, C. P. Venditti, American Society of Human Genetics, San Diego, 10/1/2007
• Preliminary experience with MRS at 3T in urea cycle disorders detects altered metabolism in partial ornithine transcarbamylase deficiency.
  Gropman AL, Hailu A, Seltzer R, Fricke ST, van Meter J, McCarter R, Tuchman M, Batshaw M, and the Urea cycle rare disorders consortium, Molecular Genetics and Metabolism, 1/1/2007
• Preliminary experience with Functional MRI (fMRI) detects altered neural networks subserving executive function and attention in subjects with partial ornithine transc...
  Gropman A, Hailu A, Seltzer R, Fricke ST, VanMeter J, Kalbfleish ML, and the Urea Cycle Rare disorders Consortium, Molecular Genetics and Metabolism, 1/1/2007
• Neuroimaging findings post renal transplant in an adult with cobalamin responsivemethylmalonic academia.
  Gropman AL, O'Brien K, Sloan J, Baker E, Venditti CP, Molecular Genetics and Metabolism, 1/1/2007
• Long term follow-up of survivors of "metabolic stroke" associated with methylmalonic aciduria.
  Adams DR, Sloan JL, Gropman AL,Baker EH, Venditti CP, Molecular Genetics and Metabolism, 1/1/2007
• Validation of the mitochondrial disease criteria (MDC).
  Hsieh D, Gropman A, Annals of Neurology, 1/1/2007
• Evaluation of Neurodegeneration in a Mouse Model of INCL by MRI and Spectroscopic Analyses.
  Heffer A, Munasinghe J, Zhang G, Hofmann S, Gropman A, Mukherjee A, Koretsky A, Proceedings of the International Society for Magnetic Resonance Imaging in Medicine (ISMRM), 1/1/2006
• Neurological Features and Functioning in Smith Lemli Opitz Syndrome (SLOS).
  Gropman AL, Goodwin H, Sparks S, Porter FD, Annals of Neurology, 1/1/2005
• Sleep Disturbance in Smith-Magenis Syndrome.
  Gropman AL, Duncan WC, Smith ACM, Annals of Neurology, 1/1/2005
• Serial Electrophysiological Measurements of Visual Function in Infantile Neuronal Lipofuscinosis.
  Caruso RC, Queszado Z, Levin SW, Fischbeck KH, Gropman AL, Hofmann S, Patronas N, Wisniewski K, Zhang Z, and Mukherjee AG, Invest. Ophthalmol Vis Sci, 1/1/2004
• Molecular and biochemical analysis of oligophrenin, a RhoGAP, in fibroblasts.
  Gropman A, Luque J, and Howell B, American Academy of Neurology, Honolulu, HI, 4/4/2003
• Reelin acts to redistribute Nck2/Grb4, a mDab 1 binding protein, to neuronal process.
  Pramatarova A, Gropman A, Howell B, National Institutes of Neurological Disorders and Stroke (NINDS) Annual Scientific Retreat, Airlie, VA, 4/1/2002
• Neurodevelopmental Assessment and Functioning in five young children with Smith-Magenis Syndrome (SMS).
  Gropman AL, Wolters P, Solomon B, and Smith ACM, 49th Annual Meeting of the American Society of Human Genetics; NHGRI Scientific Retreat, 10/21/1999
• Join now to see all

Lectures

• Coordinator and speaker: "Neuroimaging in Genetic conditions." 
  Phoenix, AZ - 3/20/2013
• Invited Talk: "MRI/MRS in urea cycle defects" 
  Fulda, Germany - 10/17/2012
• Invited Talk: "Urea-cycle defects and hyperammonemia: effects on functional imaging." 
  Grenaa, Denmark - 5/29/2012
• Invited Talk: "Urea-cycle defects and hyperammonemia: lessons for the hepatologist." 
  Grenaa, Denmark - 5/29/2012
• "Mitochondrial disorders." 
  Children's National Medical Center, Washington, DC - 3/5/2012
• Invited Grand Rounds: "Adult Neurogenetic and metabolic Disorders." 
  VA Hospital, Washington, DC - 11/22/2011
• "Advanced neuroimaging methods for assessing brain anatomy, biochemistry and function for urea cycle disorders" 
  Washington, DC - 11/8/2011
• Invited Talk: "Phenylketonuria: new insights in the mechanisms and consequences of cognitive dysfunction: Impact of pharmacological therapy on neuropsychiatric and neu... 
  Geneva, Switzerland - 8/29/2011
• "Metabolic disorders" 
  Bethesda, MD - 8/25/2011
• "Cognitive function in UCD: Neuroimaging: how it can be used to personalize care and study brains." 
  Denver, CO - 7/8/2011
• "New Frontiers in brain function in urea cycle disorders." 
  Denver, CO - 7/8/2011
• Invited Talk: "Chromosome disorders" 
  Honolulu, HI - 4/12/2011
• Invited Talk: "Altered neural activation in ornithine transcarbamylase deficiency during working memory: An fMRI study." 
  Amsterdam, Netherlands - 3/24/2011
• Invited Research Grand Rounds: "How neuroimaging can uncover the relationship between genes, biochemical markers, brain function and behavior-experience with the urea ... 
  University of Maryland, Baltimore, MD - 3/4/2011
• "What's new in neurogenetics?" 
  Children's National Medical Center, Washington, DC - 3/1/2011
• Invited Grand Rounds: "Adult Neurogenetic Disorders." 
  VA Hospital, Washington, DC - 9/22/2010
• "Medical Investigation of the Child with Delayed Development" 
  Washington, DC - 10/17/2009
• Invited Talk: "Fatty acid oxidation disorders and organic acidemia." 
  Pittsburgh, PA - 7/1/2009
• "Ataxias" 
  Children's National Medical Center, Washington, DC - 3/1/2009
• "The New Frontier Using MRI to study effects of UCDs on Brain Function." 
  Washington, DC - 7/1/2008
• "Genetics for Child Neurologists" 
  Quebec, Canada - 10/18/2007
• "Genetics for Pediatric Neurologists" 
  10/11/2007
• "The New Horizon: Studying the effects of UCDs on Brain Function." 
  Washington, DC - 7/1/2007
• "Neurological Syndromes and CNS imaging in MMA." 
  Bethesda, MD - 6/18/2007
• "Ornithine transcarbamylase deficiency, an inherited cause of hyperammonemia: current imaging strategies." 
  Huntington Medical Research Institute/California Institute of Technology, Section on Magnetic Resona - 4/17/2007
• Join now to see all

Other

• "Smith Magenis syndrome Overview" 
  Ann CM Smith, Judith E Allanson, Sarah H Elsea, Brenda M Finucane, Barbara Haas-Givler, Andrea Gropman, Kyle P Johnson, James R Lupski, Ellen Magenis, Lorraine Potocki..., GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics (database online); Copyright, U
  http://www.geneclinics.org
  8/1/2006
• "Holoprosencephaly Overview" 
  Muenke M and Gropman A, GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics (database online); Copyright, U
  http://www.geneclinics.org
  1/1/2003
• "Pseudotumor cerebri" 
  Gropman A and Packer R, Pediatric Emergencies (on disk), In: Klein, B Orenstein, and T Mayer (eds), CMC Research publication
  1/1/1998
• "Reyes Syndrome" 
  Gropman A and Packer R, Pediatric Emergencies (on disk), In: Klein, B Orenstein, and T Mayer (eds), CMC Research publication
  1/1/1998
• "Urea Cycle Disorders Overview" 
  Brendan C Lanpher, MD, Andrea Gropman, MD, Kimberly A Chapman, MD, PhD, Uta Lichter-Konecki, MD, PhD, Urea Cycle Disorders Consortium, and Marshall L Summar, MD, GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics (database online); Copyright, U
  http://www.geneclinics.org
• Join now to see all