Andrea L Gropman

Summary

Affiliation: Georgetown University
Country: USA

Publications

  1. ncbi Imaging of neurogenetic and neurometabolic disorders of childhood
    Andrea Gropman
    Departments of Pediatrics and Neurology, Georgetown University Medical Center, 3800 Reservoir Road NW, 2PHC, Washington, DC 20007, USA
    Curr Neurol Neurosci Rep 4:139-46. 2004
  2. ncbi Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy
    Andrea L Gropman
    Department of Pediatrics (Genetics and Metabolism, Georgetown University, Washington, DC 20057, USA
    Mol Genet Metab 86:2-9. 2005
  3. ncbi 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
    Mol Genet Metab 94:52-60. 2008
  4. ncbi Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)
    Andrea L Gropman
    Department of Pediatrics Genetics and Metabolism, Georgetown University, Washington, DC 20007, USA
    Pediatr Neurol 34:337-50. 2006
  5. ncbi Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome
    Carole A Samango-Sprouse
    George Washington University of the Health Sciences, Washington, DC, USA
    Acta Paediatr 100:861-5. 2011
  6. ncbi New developments in Smith-Magenis syndrome (del 17p11.2)
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University of the Health Sciences, Washington, DC 20010, USA
    Curr Opin Neurol 20:125-34. 2007
  7. ncbi Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age
    Carole A Samango-Sprouse
    George Washington University of the Health Sciences, Washington, District of Columbia, USA
    Am J Med Genet A 161:501-8. 2013
  8. ncbi Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    Hum Brain Mapp 34:753-61. 2013
  9. ncbi Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    J Dev Behav Pediatr 31:582-91. 2010
  10. ncbi Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC, USA
    Radiology 252:833-41. 2009

Collaborators

Detail Information

Publications16

  1. ncbi Imaging of neurogenetic and neurometabolic disorders of childhood
    Andrea Gropman
    Departments of Pediatrics and Neurology, Georgetown University Medical Center, 3800 Reservoir Road NW, 2PHC, Washington, DC 20007, USA
    Curr Neurol Neurosci Rep 4:139-46. 2004
    ..With MRI techniques, one can investigate the relationship between structure, function, genes, and behavior. This report discusses the research applications of MRI to the study of neurogenetic disorders of childhood...
  2. ncbi Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy
    Andrea L Gropman
    Department of Pediatrics (Genetics and Metabolism, Georgetown University, Washington, DC 20057, USA
    Mol Genet Metab 86:2-9. 2005
  3. ncbi 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
    Mol Genet Metab 94:52-60. 2008
    ..The concentration of mI seen on (1)H MRS in PWM and FWM in this family could be used to deduce clinical symptomatology and may serve as a non-invasive marker of brain liability in OTCD...
  4. ncbi Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)
    Andrea L Gropman
    Department of Pediatrics Genetics and Metabolism, Georgetown University, Washington, DC 20007, USA
    Pediatr Neurol 34:337-50. 2006
    ..Suggestions for management of the behavioral and sleep difficulties are discussed in the context of the authors' personal experience in the setting of an ongoing Smith-Magenis syndrome natural history study...
  5. ncbi Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome
    Carole A Samango-Sprouse
    George Washington University of the Health Sciences, Washington, DC, USA
    Acta Paediatr 100:861-5. 2011
    ..The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY...
  6. ncbi New developments in Smith-Magenis syndrome (del 17p11.2)
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University of the Health Sciences, Washington, DC 20010, USA
    Curr Opin Neurol 20:125-34. 2007
    ..Recent clinical, neuroimaging, sleep, and molecular cytogenetic studies have provided new insights into the mechanisms leading to the Smith-Magenis phenotype and are summarized in this review...
  7. ncbi Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age
    Carole A Samango-Sprouse
    George Washington University of the Health Sciences, Washington, District of Columbia, USA
    Am J Med Genet A 161:501-8. 2013
    ..Continued research is underway to expand our understanding of the relationship of androgen, brain function, and neurobehavioral and neurodevelopmental outcome in boys with 47,XXY...
  8. ncbi Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    Hum Brain Mapp 34:753-61. 2013
    ..Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder characterized by hyperammonemia resulting in white matter injury and impairments in working memory and executive cognition...
  9. ncbi Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    J Dev Behav Pediatr 31:582-91. 2010
    ..This review will describe a number of the molecular genetic mechanisms that play a role in disorders leading to ID/NDD and will discuss the categories and technologies for diagnostic testing of these conditions...
  10. ncbi Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC, USA
    Radiology 252:833-41. 2009
    ..To determine cerebral glutamate turnover rate in partial-ornithine transcarbamylase deficiency (OTCD) patients by using carbon 13 ((13)C) magnetic resonance (MR) spectroscopy...
  11. ncbi New frontiers in neuroimaging applications to inborn errors of metabolism
    Morgan J Prust
    Department of Neurology, Children s National Medical Center, Washington, D C 20010, USA
    Mol Genet Metab 104:195-205. 2011
    ..Emphasis will be placed on techniques that are available in the clinical setting. Though technically complex, many of these modalities have moved - or soon will - to the clinical arena...
  12. ncbi Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts
    Michael S Oldham
    Department of Neurology, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA
    Pediatr Neurol 42:49-52. 2010
    ..This finding confirms the hypothesis that the mechanism of injury in arginase deficiency, although still unknown, is unlikely to be similar to that causing ornithine transcarbamylase deficiency...
  13. ncbi Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, District of Columbia 20010, USA
    Am J Med Genet A 152:1523-30. 2010
    ..Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or other factors that warrant further investigation...
  14. ncbi 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
    A L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA
    Mol Genet Metab 95:21-30. 2008
    ..To evaluate brain metabolism in subjects with partial ornithine transcarbamylase deficiency (OTCD) utilizing (1)H MRS...
  15. ncbi Cognitive outcome in urea cycle disorders
    Andrea L Gropman
    Children's Research Institute, Children's National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010-2916, USA
    Mol Genet Metab 81:S58-62. 2004
    ..Such methods of investigation may serve as a model for studying the relationship between genes, biochemical markers, brain function, and behavior in other metabolic diseases...
  16. ncbi Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)
    Ann C M Smith
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg. 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892-1875, USA
    Genet Med 4:118-25. 2002
    ..CONCLUSION: Hypercholesterolemia is common in SMS and may serve as a useful early clinical biochemical marker of the syndrome...